6-46836846-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836846
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836846
    reference: chr 6
allele count: 32
allele frequency: 3.826652635607003e-4
allele num: 83624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-17G>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-17G>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-17G>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-17G>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-17G>C
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9907
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14836
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-46836859-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836859
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836859
    reference: chr 6
allele count: 3
allele frequency: 4.017462570640384e-5
allele num: 74674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-30T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-30T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-30T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-30T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-30T>C
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16916
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-46836860-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836860
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836860
    reference: chr 6
allele count: 2
allele frequency: 2.723608236191306e-5
allele num: 73432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-31C>A
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-31C>A
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-31C>A
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-31C>A
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-31C>A
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8164
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 6.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 175
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 181
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

6-46836861-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836861
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836861
    reference: chr 6
allele count: 8
allele frequency: 1.115417863417083e-4
allele num: 71722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-32T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-32T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-32T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-32T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-32T>C
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7725
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17273
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

6-46836877-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836877
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836877
    reference: chr 6
allele count: 13
allele frequency: 2.29422561061697e-4
allele num: 56664
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-48T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-48T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-48T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-48T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-48T>C
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15777
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23236
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 9002
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8949
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33650
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/6-46836883-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836883
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836883
    reference: chr 6
allele count: 3
allele frequency: 5.748007357449417e-5
allele num: 52192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-54T>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-54T>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-54T>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-54T>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-54T>G
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14805
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11730
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

6-46836897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836897
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836897
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 40092
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-68G>A
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-68G>A
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-68G>A
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-68G>A
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-68G>A
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 18325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20737
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19725
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

6-46836898-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836898
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836898
    reference: chr 6
allele count: 1
allele frequency: 2.519145505844418e-5
allele num: 39696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-69T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-69T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-69T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-69T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-69T>C
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18880
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11044
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-46836899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836899
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836899
    reference: chr 6
allele count: 1
allele frequency: 2.56502334171241e-5
allele num: 38986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-70A>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-70A>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-70A>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-70A>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-70A>G
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21066
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

6-46836906-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836906
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836906
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 35120
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-77T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-77T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-77T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-77T>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-77T>C
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18125
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

6-46836921-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836921
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836921
    reference: chr 6
allele count: 1
allele frequency: 4.563292872136533e-5
allele num: 21914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-92C>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-92C>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-92C>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-92C>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-92C>G
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13102
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

6-46836926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836926
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836926
    reference: chr 6
allele count: 1
allele frequency: 4.909180166912126e-5
allele num: 20370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-97C>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-97C>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-97C>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-97C>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-97C>T
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12572
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

6-46836931-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836931
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836932
    reference: chr 6
allele count: 458
allele frequency: 4.534653465346535e-2
allele num: 10100
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-103dupT
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-103dupT
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-103dupT
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-103dupT
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-103dupT
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 1.75e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 2.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 12349
  bin: 7.5e0
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29714
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 1.25e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 25095
  bin: 7.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 6.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 4666
  bin: 2.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 15192
  bin: 2.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 1.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 6.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 1.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.25e1
  variant carriers: 16
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-46836931-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836931
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836930
    reference: chr 6
allele count: 273
allele frequency: 2.702970297029703e-2
allele num: 10100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-103delT
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-103delT
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-103delT
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-103delT
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-103delT
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 1.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 12349
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 29714
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 2.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 1.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 6.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 25095
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 6.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 15192
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 4666
  bin: 2.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 1.25e1
  variant carriers: 7
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: GA
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

6-46836942-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836942
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836942
    reference: chr 6
allele count: 1
allele frequency: 7.068136839129205e-5
allele num: 14148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-113A>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-113A>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-113A>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-113A>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-113A>T
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10263
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7596
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5159
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

6-46836943-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836943
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836943
    reference: chr 6
allele count: 1
allele frequency: 7.020499859590003e-5
allele num: 14244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-114C>A
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-114C>A
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-114C>A
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-114C>A
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-114C>A
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7240
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26708
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

6-46836946-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46836946
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46836946
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 14072
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-302-117G>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1412-117G>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1412-117G>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.986-117G>C
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1412-117G>C
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32520
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10218
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7074
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26725
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

6-46838551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46838551
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46838551
    reference: chr 6
allele count: 1
allele frequency: 8.315316813570597e-5
allele num: 12026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-303+1029C>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1411+1029C>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1411+1029C>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.985+1029C>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1411+1029C>T
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

6-46838574-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46838574
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46838574
    reference: chr 6
allele count: 5
allele frequency: 4.132914531327492e-4
allele num: 12098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1411+1006C>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-303+1006C>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.985+1006C>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1411+1006C>T
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1411+1006C>T
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-46838648-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46838648
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46838648
    reference: chr 6
allele count: 1
allele frequency: 3.154574132492114e-4
allele num: 3170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1411+932T>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-303+932T>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1411+932T>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.985+932T>G
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1411+932T>G
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

6-46838659-T-TTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46838659
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46838661
    reference: chr 6
allele count: 9813
allele frequency: 9.633811113292755e-1
allele num: 10186
alternate allele: TTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.985+919_985+920dupCA
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1411+919_1411+920dupCA
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1411+919_1411+920dupCA
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1411+919_1411+920dupCA
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-303+919_-303+920dupCA
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.75e1
  variant carriers: 312
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.25e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 1.75e1
  variant carriers: 1646
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.5e0
  variant carriers: 958
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.25e1
  variant carriers: 668
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 1.25e1
  variant carriers: 1949
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.75e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.25e1
  variant carriers: 544
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 141
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 447
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.75e1
  variant carriers: 766
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.25e1
  variant carriers: 381
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 146
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.75e1
  variant carriers: 578
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.25e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 162
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.75e1
  variant carriers: 422
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 6.75e1
  variant carriers: 177
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.75e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.25e1
  variant carriers: 150
num of homozygotes: 4735
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

5-133909343-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909343
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909343
    reference: chr 5
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1443T>C
  hgvsp: ENST00000282605.4:c.1443T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.913T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3115T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1443T>C
  hgvsp: ENST00000395003.1:c.1443T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1443T>C
  hgvsp: ENST00000361895.2:c.1443T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39388
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5693
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn481Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

5-133909367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909367
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909367
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1467C>T
  hgvsp: ENST00000395003.1:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1467C>T
  hgvsp: ENST00000361895.2:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3091C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.937C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1467C>T
  hgvsp: ENST00000282605.4:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39392
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg489Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/5-133909375-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909375
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909375
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1475C>A
  hgvsp: ENSP00000282605.4:p.Thr492Lys
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3083C>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1475C>A
  hgvsp: ENSP00000354425.2:p.Thr492Lys
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1475C>A
  hgvsp: ENSP00000378451.1:p.Thr492Lys
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.945C>A
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39396
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr492Lys
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

5-133909375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909375
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909375
    reference: chr 5
allele count: 7
allele frequency: 5.766347595433053e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3083C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.945C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1475C>T
  hgvsp: ENSP00000282605.4:p.Thr492Met
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1475C>T
  hgvsp: ENSP00000354425.2:p.Thr492Met
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1475C>T
  hgvsp: ENSP00000378451.1:p.Thr492Met
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr492Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-133909376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909376
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909376
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1476G>A
  hgvsp: ENST00000361895.2:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3082G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1476G>A
  hgvsp: ENST00000282605.4:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.946G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1476G>A
  hgvsp: ENST00000395003.1:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39392
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr492Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-133909382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909382
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909382
    reference: chr 5
allele count: 11
allele frequency: 9.061254077564335e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3076C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1482C>T
  hgvsp: ENST00000282605.4:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.952C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1482C>T
  hgvsp: ENST00000395003.1:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1482C>T
  hgvsp: ENST00000361895.2:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His494His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ

5-133909383-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909383
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909383
    reference: chr 5
allele count: 4
allele frequency: 3.295055768818887e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3075G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1483G>T
  hgvsp: ENSP00000282605.4:p.Ala495Ser
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1483G>T
  hgvsp: ENSP00000354425.2:p.Ala495Ser
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1483G>T
  hgvsp: ENSP00000378451.1:p.Ala495Ser
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.953G>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39395
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala495Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

5-133909410-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909410
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909410
    reference: chr 5
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1510T>C
  hgvsp: ENSP00000282605.4:p.Phe504Leu
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1510T>C
  hgvsp: ENSP00000354425.2:p.Phe504Leu
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1510T>C
  hgvsp: ENSP00000378451.1:p.Phe504Leu
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3048T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.980T>C
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe504Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

6-46838659-T-TCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46838659
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46838661
    reference: chr 6
allele count: 1
allele frequency: 9.817396426467701e-5
allele num: 10186
alternate allele: TCG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-303+920_-303+921insCG
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1411+920_1411+921insCG
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1411+920_1411+921insCG
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.985+920_985+921insCG
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1411+920_1411+921insCG
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

6-46838662-T-TGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46838662
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 46838664
    reference: chr 6
allele count: 1
allele frequency: 1.026061974143238e-4
allele num: 9746
alternate allele: TGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000265417
  ensembl transcript: ENST00000265417
  gene symbol: GPR116
  hgvsc: ENST00000265417.7:c.1411+917_1411+918insGC
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000283296
  ensembl transcript: ENST00000283296
  gene symbol: GPR116
  hgvsc: ENST00000283296.7:c.1411+917_1411+918insGC
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000354563
  ensembl transcript: ENST00000362015
  gene symbol: GPR116
  hgvsc: ENST00000362015.4:c.1411+917_1411+918insGC
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000441581
  ensembl transcript: ENST00000545669
  gene symbol: GPR116
  hgvsc: ENST00000545669.1:c.-303+917_-303+918insGC
  variant of: http://identifiers.org/hgnc/19030
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000069122
  ensembl protein: ENSP00000412866
  ensembl transcript: ENST00000456426
  gene symbol: GPR116
  hgvsc: ENST00000456426.2:c.985+917_985+918insGC
  variant of: http://identifiers.org/hgnc/19030
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-133909418-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909418
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909418
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1518G>T
  hgvsp: ENST00000395003.1:c.1518G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3040G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1518G>T
  hgvsp: ENST00000282605.4:c.1518G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1518G>T
  hgvsp: ENST00000361895.2:c.1518G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.988G>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39402
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu506Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

5-133909422-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909422
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909422
    reference: chr 5
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1522A>G
  hgvsp: ENSP00000354425.2:p.Met508Val
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1522A>G
  hgvsp: ENSP00000378451.1:p.Met508Val
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3036A>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.992A>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1522A>G
  hgvsp: ENSP00000282605.4:p.Met508Val
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39401
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met508Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

5-133909423-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909423
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909423
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1523T>A
  hgvsp: ENSP00000354425.2:p.Met508Lys
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.993T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1523T>A
  hgvsp: ENSP00000378451.1:p.Met508Lys
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3035T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1523T>A
  hgvsp: ENSP00000282605.4:p.Met508Lys
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39401
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met508Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/5-133909428-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909428
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909428
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1528C>A
  hgvsp: ENSP00000378451.1:p.Leu510Ile
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1528C>A
  hgvsp: ENSP00000282605.4:p.Leu510Ile
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1528C>A
  hgvsp: ENSP00000354425.2:p.Leu510Ile
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3030C>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.998C>A
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39400
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu510Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

5-133909428-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909428
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909428
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1528C>T
  hgvsp: ENSP00000378451.1:p.Leu510Phe
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1528C>T
  hgvsp: ENSP00000354425.2:p.Leu510Phe
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3030C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1528C>T
  hgvsp: ENSP00000282605.4:p.Leu510Phe
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.998C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu510Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

5-133909432-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909432
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909432
    reference: chr 5
allele count: 5
allele frequency: 4.118751853438334e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1532T>C
  hgvsp: ENSP00000354425.2:p.Ile511Thr
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1532T>C
  hgvsp: ENSP00000282605.4:p.Ile511Thr
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1532T>C
  hgvsp: ENSP00000378451.1:p.Ile511Thr
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3026T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1002T>C
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39401
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Ile511Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

5-133909445-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909445
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909445
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1015G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3013G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1545G>T
  hgvsp: ENST00000361895.2:c.1545G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1545G>T
  hgvsp: ENST00000282605.4:c.1545G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1545G>T
  hgvsp: ENST00000395003.1:c.1545G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu515Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

5-133909446-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909446
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909446
    reference: chr 5
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1016T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1546T>C
  hgvsp: ENSP00000378451.1:p.Cys516Arg
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1546T>C
  hgvsp: ENSP00000282605.4:p.Cys516Arg
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1546T>C
  hgvsp: ENSP00000354425.2:p.Cys516Arg
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3012T>C
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys516Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

5-133909458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909458
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909458
    reference: chr 5
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+6C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+6C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-3000C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+6C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+6C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1028C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39406
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1552+6C>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

5-133909464-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909464
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909464
    reference: chr 5
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+12C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1034C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+12C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+12C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2994C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+12C>G
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

5-133909464-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909464
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909464
    reference: chr 5
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2994C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+12C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+12C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1034C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+12C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+12C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

5-133909467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909467
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909467
    reference: chr 5
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1037C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+15C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2991C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+15C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+15C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+15C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/5-133909468-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909468
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909468
    reference: chr 5
allele count: 280
allele frequency: 2.332633543270352e-3
allele num: 120036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+16A>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2990A>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+16A>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+16A>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1038A>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+16A>C
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 5.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7941
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 7.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 7.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 6.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 5.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 7.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 38586
  bin: 9.75e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 8.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 7.75e1
  variant carriers: 8
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

5-133909474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909474
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909474
    reference: chr 5
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2984C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+22C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1044C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+22C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+22C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+22C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39710
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

5-133909475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909475
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909475
    reference: chr 5
allele count: 97520
allele frequency: 8.037185995912178e-1
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2983G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1045G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+23G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+23G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+23G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+23G>A
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 8.25e1
  variant carriers: 2856
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 2.25e1
  variant carriers: 453
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.25e1
  variant carriers: 1599
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 6.25e1
  variant carriers: 5305
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 5.25e1
  variant carriers: 4924
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 6.75e1
  variant carriers: 4919
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 4.75e1
  variant carriers: 4159
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 4.25e1
  variant carriers: 3393
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 2.75e1
  variant carriers: 971
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 8.75e1
  variant carriers: 2278
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 5.75e1
  variant carriers: 5241
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 3.75e1
  variant carriers: 2460
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 9.25e1
  variant carriers: 1666
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 7.75e1
  variant carriers: 3710
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 7.25e1
  variant carriers: 4255
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 9.75e1
  variant carriers: 9197
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 373
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 6.25e1
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.25e1
  variant carriers: 139
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 69
num of homozygotes: 39912
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

5-133909477-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909477
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909477
    reference: chr 5
allele count: 6
allele frequency: 4.958595725690485e-5
allele num: 121002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1047C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+25C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+25C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+25C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+25C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2981C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

5-133909478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909478
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909478
    reference: chr 5
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2980G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1048G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+26G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+26G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+26G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+26G>A
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

5-133909480-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909480
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909480
    reference: chr 5
allele count: 3
allele frequency: 2.480199738752294e-5
allele num: 120958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+28C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+28C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+28C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+28C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1050C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2978C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

5-133909486-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909486
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909486
    reference: chr 5
allele count: 1
allele frequency: 8.277734549608463e-6
allele num: 120806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2972C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+34C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+34C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+34C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1056C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+34C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12886
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
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genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

5-133909492-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909492
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909492
    reference: chr 5
allele count: 1
allele frequency: 8.306199747491528e-6
allele num: 120392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+40C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1062C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+40C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2966C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+40C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+40C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
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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: 568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

5-133909494-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909494
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909494
    reference: chr 5
allele count: 2
allele frequency: 1.662040653514385e-5
allele num: 120334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+42C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+42C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2964C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+42C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1064C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+42C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12638
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-133909502-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909502
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909502
    reference: chr 5
allele count: 2
allele frequency: 1.671206778414693e-5
allele num: 119674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2956C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1072C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+50C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+50C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+50C>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+50C>G
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33423
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

5-133909502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909502
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909502
    reference: chr 5
allele count: 5
allele frequency: 4.178016946036733e-5
allele num: 119674
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+50C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+50C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+50C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1072C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2956C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+50C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

5-133909502-CGGGGCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909502
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909496
    reference: chr 5
allele count: 1
allele frequency: 8.356033892073466e-6
allele num: 119674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+54_1552+59delGCTGGG
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+54_6+59delGCTGGG
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1076_1081delGCTGGG
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+54_1552+59delGCTGGG
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+54_1552+59delGCTGGG
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: CGGGGCT
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

5-133909503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909503
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909503
    reference: chr 5
allele count: 2
allele frequency: 1.673444115333769e-5
allele num: 119514
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+51G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2955G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1073G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+51G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+51G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+51G>A
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11045
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-133909506-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909506
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909506
    reference: chr 5
allele count: 19
allele frequency: 1.5960753347558e-4
allele num: 119042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+54G>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+54G>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2952G>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+54G>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1076G>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+54G>C
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12006
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33107
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

5-133909525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909525
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909525
    reference: chr 5
allele count: 2
allele frequency: 1.793046565419304e-5
allele num: 111542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+73G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1095G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2933G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+73G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+73G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+73G>A
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

5-133909539-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909539
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909539
    reference: chr 5
allele count: 1
allele frequency: 9.861154938466394e-6
allele num: 101408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1109T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+87T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+87T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2919T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+87T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+87T>C
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9748
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11443
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18451
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

5-133909540-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909540
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909540
    reference: chr 5
allele count: 155
allele frequency: 1.543148421010712e-3
allele num: 100444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+88G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+88G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1110G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+88G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+88G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2918G>T
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9520
  bin: 2.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20165
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11839
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9682
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

5-133909541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909541
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909541
    reference: chr 5
allele count: 4
allele frequency: 4.141215446733616e-5
allele num: 96590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+89G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+89G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+89G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1111G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+89G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2917G>A
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17904
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22069
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

5-133909543-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909543
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909543
    reference: chr 5
allele count: 65
allele frequency: 6.744977585920638e-4
allele num: 96368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2915G>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+91G>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+91G>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+91G>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1113G>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+91G>C
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13552
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11389
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17878
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-133909547-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909547
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909547
    reference: chr 5
allele count: 1
allele frequency: 1.100763930167536e-5
allele num: 90846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+95G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2911G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+95G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1117G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+95G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+95G>T
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15139
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-133909551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909551
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909551
    reference: chr 5
allele count: 2
allele frequency: 2.29205345068647e-5
allele num: 87258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1121G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+99G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2907G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+99G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+99G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+99G>A
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16572
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

5-133909554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909554
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909554
    reference: chr 5
allele count: 5
allele frequency: 6.017861011482079e-5
allele num: 83086
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+102C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+102C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1124C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+102C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+102C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2904C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17457
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

5-133909555-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909555
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909555
    reference: chr 5
allele count: 2
allele frequency: 2.476534832462419e-5
allele num: 80758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+103G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+103G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1125G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+103G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+103G>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2903G>A
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10640
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

5-133909560-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909560
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909560
    reference: chr 5
allele count: 1
allele frequency: 1.343075104759858e-5
allele num: 74456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+108G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1130G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+108G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+108G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2898G>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+108G>T
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18984
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
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genotype quality: GenotypeQuality
  all individuals: 4168
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genotype quality: GenotypeQuality
  all individuals: 11878
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 265
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

5-133909579-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909579
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909579
    reference: chr 5
allele count: 1
allele frequency: 1.921377243207932e-5
allele num: 52046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1149C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+127C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2879C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+127C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+127C>T
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+127C>T
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16418
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22868
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/5-133909589-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909589
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909589
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 42798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+137C>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1159C>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+137C>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+137C>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2869C>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+137C>A
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22455
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29515
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 15751
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-133909590-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909590
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909590
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 42782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+138T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1160T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2868T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+138T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+138T>A
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+138T>A
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22509
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15016
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 899
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genotype quality: GenotypeQuality
  all individuals: 1688
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genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15842
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 347
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

5-133909590-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909590
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909590
    reference: chr 5
allele count: 1
allele frequency: 2.337431630124819e-5
allele num: 42782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+138T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+138T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+138T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2868T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1160T>C
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+138T>C
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15016
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 5714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15842
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 75
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29934
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genotype quality: GenotypeQuality
  all individuals: 936
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

5-133909596-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909596
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909596
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 38338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+144A>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1166A>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2862A>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+144A>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+144A>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+144A>G
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20939
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11788
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

5-133909606-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133909606
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 133909606
    reference: chr 5
allele count: 1
allele frequency: 3.327565553041395e-5
allele num: 30052
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000378451
  ensembl transcript: ENST00000395003
  gene symbol: JADE2
  hgvsc: ENST00000395003.1:c.1552+154T>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000384671
  ensembl transcript: ENST00000402835
  gene symbol: JADE2
  hgvsc: ENST00000402835.1:c.1435-2852T>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000396026
  ensembl transcript: ENST00000430087
  gene symbol: JADE2
  hgvsc: ENST00000430087.1:c.6+154T>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000354425
  ensembl transcript: ENST00000361895
  gene symbol: JADE2
  hgvsc: ENST00000361895.2:c.1552+154T>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000043143
  ensembl transcript: ENST00000470876
  gene symbol: JADE2
  hgvsc: ENST00000470876.1:n.1176T>G
  variant of: http://identifiers.org/hgnc/22984
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000043143
  ensembl protein: ENSP00000282605
  ensembl transcript: ENST00000282605
  gene symbol: JADE2
  hgvsc: ENST00000282605.4:c.1552+154T>G
  variant of: http://identifiers.org/hgnc/22984
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26343
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

5-133909610-C-T
type: Variant
location: Region
allele count: 0
allele frequency: 0.0e0
allele num: 24670
alternate allele: T
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 829
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12890
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.363512407962912e-4
allele num: 7334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7366
num of homozygotes: 0

East Asian
type: Population
allele count: 31
allele frequency: 5.52584670231729e-3
allele num: 5610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

QD
type: SiteQuality
SIO_000300: 1.473e1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

FS
type: SiteQuality
SIO_000300: 7.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.025519e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

GenotypeQuality
all individuals: 1428
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 9.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4426
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.4816253361219e-4
allele num: 6694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39696
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 8.99862e5

QD
type: SiteQuality
SIO_000300: 1.54e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

GenotypeQuality
all individuals: 1491
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 192
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 3.243593902043464e-4
allele num: 6166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38978
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.83e0

FS
type: SiteQuality
SIO_000300: 2.403e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

DP
type: SiteQuality
SIO_000300: 8.89081e5

QD
type: SiteQuality
SIO_000300: 9.77e0

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

GenotypeQuality
all individuals: 268
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4516
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 1.346801346801347e-3
allele num: 5940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4246
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.65901e5

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.88e-1

FS
type: SiteQuality
SIO_000300: 1.114e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.568e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 13
allele frequency: 2.479023646071701e-3
allele num: 5244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10642
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.32301e5

QD
type: SiteQuality
SIO_000300: 1.367e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

GenotypeQuality
all individuals: 93
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32095
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 8.214676889375684e-4
allele num: 3652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2874
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.028e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.26e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.166e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

DP
type: SiteQuality
SIO_000300: 6.92511e5

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2520
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

FS
type: SiteQuality
SIO_000300: 6.984e0

DP
type: SiteQuality
SIO_000300: 5.93279e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.027e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

VQSLOD
type: SiteQuality
SIO_000300: -4.273e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.66e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 196
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3814
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.555555555555556e-4
allele num: 1800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 5.85809e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.68e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.897e0

QD
type: SiteQuality
SIO_000300: 5.21e0

MQ
type: SiteQuality
SIO_000300: 3.579e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

GenotypeQuality
all individuals: 727
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2036
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.678093197643278e-4
allele num: 3734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1742
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.83e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.294e0

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

QD
type: SiteQuality
SIO_000300: 3.242e1

DP
type: SiteQuality
SIO_000300: 5.78665e5

GenotypeQuality
all individuals: 669
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24996
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2124
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.48e-2

DP
type: SiteQuality
SIO_000300: 5.34891e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.861e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

QD
type: SiteQuality
SIO_000300: 1.793e1

GenotypeQuality
all individuals: 30104
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
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variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Finnish)
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: 644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.815469179426777e-5
allele num: 10188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2104
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.904e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.96e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.00403e5

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.816e1

GenotypeQuality
all individuals: 329
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29793
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.824817518248175e-3
allele num: 548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.85992e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.99e-2

QD
type: SiteQuality
SIO_000300: 9.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 79
bin: 7.75e1
variant carriers: 13

GenotypeQuality
all individuals: 245
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 174
bin: 4.25e1
variant carriers: 52

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 8

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 5

East Asian
type: Population
allele count: 13
allele frequency: 3.77906976744186e-2
allele num: 344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 9.554140127388535e-3
allele num: 314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 123
allele frequency: 2.477840451248993e-2
allele num: 4964
num of homozygotes: 0

African
type: Population
allele count: 56
allele frequency: 4.651162790697674e-2
allele num: 1204
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 2.573529411764706e-2
allele num: 272
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 3.333333333333333e-2
allele num: 120
num of homozygotes: 0

South Asian
type: Population
allele count: 252
allele frequency: 8.743927827897294e-2
allele num: 2882
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

QD
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

DP
type: SiteQuality
SIO_000300: 3.65519e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

GenotypeQuality
all individuals: 79
bin: 7.75e1
variant carriers: 7

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 23

GenotypeQuality
all individuals: 55
bin: 9.25e1
variant carriers: 10

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 8

GenotypeQuality
all individuals: 650
bin: 2.75e1
variant carriers: 13

South Asian
type: Population
allele count: 20
allele frequency: 6.939625260235947e-3
allele num: 2882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 2.205882352941177e-2
allele num: 272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 223
allele frequency: 4.492344883158743e-2
allele num: 4964
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 9.136212624584718e-3
allele num: 1204
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 3.488372093023256e-2
allele num: 344
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 8.333333333333333e-3
allele num: 120
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.65519e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 549
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
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variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 109
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 6.459948320413437e-4
allele num: 1548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.872e1

VQSLOD
type: SiteQuality
SIO_000300: -2.081e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e0

DP
type: SiteQuality
SIO_000300: 2.9674e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.71e-2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
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GenotypeQuality
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GenotypeQuality
all individuals: 111
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GenotypeQuality
all individuals: 102
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49655791679138e-4
allele num: 6682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 2.95213e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

QD
type: SiteQuality
SIO_000300: 4.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 5.566e1

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3901
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GenotypeQuality
all individuals: 1032
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variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1548
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 2.166e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.46e-2

MQ
type: SiteQuality
SIO_000300: 5.177e1

DP
type: SiteQuality
SIO_000300: 2.91976e5

GenotypeQuality
all individuals: 5488
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3520
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.34517083669626e-4
allele num: 7434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.545e0

FS
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.818e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.77e-2

DP
type: SiteQuality
SIO_000300: 1.50852e5

VQSLOD
type: SiteQuality
SIO_000300: -7.618e-1

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 374
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 9.025270758122744e-3
allele num: 554
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.751e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

DP
type: SiteQuality
SIO_000300: 1.51456e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.558e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.598784194528875e-4
allele num: 1316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.02e-2

QD
type: SiteQuality
SIO_000300: 1.323e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

MQ
type: SiteQuality
SIO_000300: 5.684e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

DP
type: SiteQuality
SIO_000300: 1.24714e5

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.887e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 43

GenotypeQuality
all individuals: 205
bin: 6.25e1
variant carriers: 204

GenotypeQuality
all individuals: 732
bin: 4.25e1
variant carriers: 731

GenotypeQuality
all individuals: 743
bin: 9.75e1
variant carriers: 743

GenotypeQuality
all individuals: 382
bin: 2.25e1
variant carriers: 382

South Asian
type: Population
allele count: 5844
allele frequency: 9.74974974974975e-1
allele num: 5994
num of homozygotes: 2854

African
type: Population
allele count: 477
allele frequency: 8.768382352941176e-1
allele num: 544
num of homozygotes: 207

European (Non-Finnish)
type: Population
allele count: 3018
allele frequency: 9.556681443951869e-1
allele num: 3158
num of homozygotes: 1444

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.0e0
allele num: 2
num of homozygotes: 1

East Asian
type: Population
allele count: 192
allele frequency: 1.0e0
allele num: 192
num of homozygotes: 96

Latino
type: Population
allele count: 165
allele frequency: 9.482758620689655e-1
allele num: 174
num of homozygotes: 78

Other
type: Population
allele count: 115
allele frequency: 9.426229508196722e-1
allele num: 122
num of homozygotes: 55

DP
type: SiteQuality
SIO_000300: 1.0417e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.548e-1

QD
type: SiteQuality
SIO_000300: 3.776e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2953
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.7e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.772749e6

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
all individuals: 2953
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2987
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2736
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.711e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.867e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.41e-1

FS
type: SiteQuality
SIO_000300: 1.0698e1

DP
type: SiteQuality
SIO_000300: 2.773346e6

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2996
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5673
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.7739e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39396
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2956
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994305409860632e-5
allele num: 66730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 2.7739e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

GenotypeQuality
all individuals: 2958
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2964
bin: 9.25e1
variant carriers: 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: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 2.047e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

QD
type: SiteQuality
SIO_000300: 1.301e1

DP
type: SiteQuality
SIO_000300: 2.773842e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39394
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2735
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.348678295270635e-4
allele num: 66732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.403e1

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.774339e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5679
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.774535e6

QD
type: SiteQuality
SIO_000300: 1.236e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

FS
type: SiteQuality
SIO_000300: 4.064e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

GenotypeQuality
all individuals: 39400
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2967
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.416e0

FS
type: SiteQuality
SIO_000300: 2.7898e1

DP
type: SiteQuality
SIO_000300: 2.774671e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.32e0

QD
type: SiteQuality
SIO_000300: 7.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

GenotypeQuality
all individuals: 732
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 581
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.668335001668335e-4
allele num: 5994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

DP
type: SiteQuality
SIO_000300: 1.0417e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.548e-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

South Asian
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allele frequency: 1.759324419422942e-4
allele num: 5684
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3050
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

QD
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BaseQRankSum
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MQRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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Other
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allele num: 906
num of homozygotes: 0

South 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: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.936e1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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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: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

East Asian
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allele count: 0
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num of homozygotes: 0

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

South Asian
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allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele num: 66734
num of homozygotes: 0

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

European (Finnish)
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African
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European (Non-Finnish)
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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BaseQRankSum
type: SiteQuality
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FS
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VQSLOD
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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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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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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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DP
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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allele num: 66718
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Other
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DP
type: SiteQuality
SIO_000300: 2.77189e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e0

QD
type: SiteQuality
SIO_000300: 1.189e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5130
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2959
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2942
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39402
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.189e1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 2.77189e6

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2948
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39411
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2962
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5222
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.556e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.89e-1

FS
type: SiteQuality
SIO_000300: 1.584e0

QD
type: SiteQuality
SIO_000300: 1.721e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-1

DP
type: SiteQuality
SIO_000300: 2.772135e6

GenotypeQuality
all individuals: 171
bin: 2.25e1
variant carriers: 18

GenotypeQuality
all individuals: 177
bin: 2.75e1
variant carriers: 26

GenotypeQuality
all individuals: 2871
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2709
bin: 6.75e1
variant carriers: 11

GenotypeQuality
all individuals: 216
bin: 5.75e1
variant carriers: 14

GenotypeQuality
all individuals: 4911
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 2840
bin: 8.25e1
variant carriers: 13

GenotypeQuality
all individuals: 92
bin: 1.25e1
variant carriers: 22

Other
type: Population
allele count: 2
allele frequency: 2.272727272727273e-3
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 73
allele frequency: 7.182211727666273e-3
allele num: 10164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 171
allele frequency: 2.594289528779925e-3
allele num: 65914
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73460537727667e-4
allele num: 11530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 30
allele frequency: 4.677268475210477e-3
allele num: 6414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.046e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.95e-1

FS
type: SiteQuality
SIO_000300: 4.082e1

VQSLOD
type: SiteQuality
SIO_000300: -9.644e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

DP
type: SiteQuality
SIO_000300: 2.784489e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

QD
type: SiteQuality
SIO_000300: 5.0e-1

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2934
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.363e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

QD
type: SiteQuality
SIO_000300: 1.662e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

DP
type: SiteQuality
SIO_000300: 2.793048e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 4.805e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 341
bin: 7.75e1
variant carriers: 254

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 23

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 650
bin: 6.75e1
variant carriers: 168

GenotypeQuality
all individuals: 348
bin: 8.25e1
variant carriers: 318

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 291
bin: 8.75e1
variant carriers: 286

GenotypeQuality
all individuals: 55733
bin: 9.75e1
variant carriers: 55701

European (Finnish)
type: Population
allele count: 5868
allele frequency: 8.874773139745916e-1
allele num: 6612
num of homozygotes: 2615

Latino
type: Population
allele count: 10792
allele frequency: 9.322736696613684e-1
allele num: 11576
num of homozygotes: 5040

South Asian
type: Population
allele count: 9657
allele frequency: 5.850599781897492e-1
allele num: 16506
num of homozygotes: 2877

European (Non-Finnish)
type: Population
allele count: 55559
allele frequency: 8.329185656032622e-1
allele num: 66704
num of homozygotes: 23153

East Asian
type: Population
allele count: 5892
allele frequency: 6.825764596848934e-1
allele num: 8632
num of homozygotes: 2023

African
type: Population
allele count: 9023
allele frequency: 8.675961538461539e-1
allele num: 10400
num of homozygotes: 3907

Other
type: Population
allele count: 729
allele frequency: 8.04635761589404e-1
allele num: 906
num of homozygotes: 297

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.63e-2

DP
type: SiteQuality
SIO_000300: 4.231573e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 5.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 2.553e1

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.517892584350755e-5
allele num: 66508
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 1.670804e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

QD
type: SiteQuality
SIO_000300: 1.091e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

MQ
type: SiteQuality
SIO_000300: 5.87e1

GenotypeQuality
all individuals: 9045
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.946e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

QD
type: SiteQuality
SIO_000300: 5.54e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: -3.049e-1

DP
type: SiteQuality
SIO_000300: 1.67019e6

GenotypeQuality
all individuals: 46380
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.975e0

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.094e0

QD
type: SiteQuality
SIO_000300: 2.867e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.719e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.38e-1

DP
type: SiteQuality
SIO_000300: 1.668318e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.93e-1

DP
type: SiteQuality
SIO_000300: 1.663301e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.247e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.782e1

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8778
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511030522816561e-5
allele num: 66180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 3.798e0

VQSLOD
type: SiteQuality
SIO_000300: -2.033e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.959e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

QD
type: SiteQuality
SIO_000300: 2.084e1

DP
type: SiteQuality
SIO_000300: 1.652296e6

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
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: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31696014828545e-4
allele num: 8632
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.473e0

DP
type: SiteQuality
SIO_000300: 1.650707e6

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.192e0

QD
type: SiteQuality
SIO_000300: 2.816e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8573
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.038867110341265e-5
allele num: 65814
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.633239e6

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

QD
type: SiteQuality
SIO_000300: 1.341e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8573
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.218323586744639e-4
allele num: 16416
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.558300665511897e-5
allele num: 65814
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.633239e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

QD
type: SiteQuality
SIO_000300: 1.341e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

GenotypeQuality
all individuals: 1376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8573
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

QD
type: SiteQuality
SIO_000300: 1.341e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.633239e6

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

GenotypeQuality
all individuals: 523
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
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variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.219363492257042e-4
allele num: 16402
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.226e-1

FS
type: SiteQuality
SIO_000300: 2.773e0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.628975e6

QD
type: SiteQuality
SIO_000300: 2.245e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
all individuals: 2221
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45034
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variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
all individuals: 487
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variant carriers: 0

GenotypeQuality
all individuals: 8446
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
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variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.595419847328244e-4
allele num: 65500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.116235587410408e-4
allele num: 6418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.328e1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.617588e6

GenotypeQuality
all individuals: 37466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9627
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15812
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.252349822746935e-5
allele num: 61494
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.028e0

QD
type: SiteQuality
SIO_000300: 1.425e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.444354e6

GenotypeQuality
all individuals: 39
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.78839688103584e-5
allele num: 55916
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.934e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

DP
type: SiteQuality
SIO_000300: 1.239917e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4988
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27985
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 467
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.75e1
variant carriers: 152

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.48015873015873e-4
allele num: 8064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.355013550135501e-3
allele num: 5166
num of homozygotes: 0

South Asian
type: Population
allele count: 35
allele frequency: 2.33395572152574e-3
allele num: 14996
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.382187147688839e-4
allele num: 8870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 108
allele frequency: 1.950726103605231e-3
allele num: 55364
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

FS
type: SiteQuality
SIO_000300: 1.901e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 1.225336e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1823
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 659
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variant carriers: 0

GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 532
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.712967986977754e-4
allele num: 14744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

FS
type: SiteQuality
SIO_000300: 8.069000000000001e0

DP
type: SiteQuality
SIO_000300: 1.157434e6

VQSLOD
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.469e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.193e1

GenotypeQuality
all individuals: 914
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1778
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variant carriers: 0

GenotypeQuality
all individuals: 504
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 25165
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.19019281123542e-4
allele num: 8402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

South Asian
type: Population
allele count: 62
allele frequency: 4.20966865833786e-3
allele num: 14728
num of homozygotes: 1

East Asian
type: Population
allele count: 2
allele frequency: 2.884338044418806e-4
allele num: 6934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.08e0

DP
type: SiteQuality
SIO_000300: 1.155065e6

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

GenotypeQuality
all individuals: 334
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1951
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25751
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 7.5e0
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.009646302250804e-5
allele num: 49760
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.797e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

DP
type: SiteQuality
SIO_000300: 1.069025e6

VQSLOD
type: SiteQuality
SIO_000300: -1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.267e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 19095
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27994
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.195158786760079e-5
allele num: 47674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6938
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.368e0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

DP
type: SiteQuality
SIO_000300: 1.01204e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.239e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2535
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
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variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.711156741957563e-4
allele num: 5844
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.87686996547756e-4
allele num: 6952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.213172804532578e-5
allele num: 45184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13798
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.521606816798539e-4
allele num: 6572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4096
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

DP
type: SiteQuality
SIO_000300: 9.58173e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.083e1

GenotypeQuality
all individuals: 1010
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
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variant carriers: 0

GenotypeQuality
all individuals: 15198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3940
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.32171621027969e-5
allele num: 13658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.282688093498904e-5
allele num: 43808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5674
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.28332e5

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 3.024e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 7.37e-1

GenotypeQuality
all individuals: 35
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32858
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
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variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.50075022506752e-5
allele num: 39988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.46979e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.101e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

GenotypeQuality
all individuals: 32544
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27006
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.601456815816858e-4
allele num: 3844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3408
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

FS
type: SiteQuality
SIO_000300: 3.139e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.47612e5

VQSLOD
type: SiteQuality
SIO_000300: -6.931e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.62e-2

QD
type: SiteQuality
SIO_000300: 7.58e0

GenotypeQuality
all individuals: 927
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
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GenotypeQuality
all individuals: 1093
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
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variant carriers: 0

GenotypeQuality
all individuals: 5637
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.47e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.82742e5

QD
type: SiteQuality
SIO_000300: 8.16e0

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
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GenotypeQuality
all individuals: 30
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5714
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variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2758
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.15e0

VQSLOD
type: SiteQuality
SIO_000300: -9.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.75e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 7.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.81484e5

GenotypeQuality
all individuals: 1094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1394
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GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.629629629629629e-5
allele num: 21600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.75e-2

FS
type: SiteQuality
SIO_000300: 4.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.3e-1

QD
type: SiteQuality
SIO_000300: 7.29e0

DP
type: SiteQuality
SIO_000300: 5.81484e5

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 5305
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GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.25e1
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GenotypeQuality
all individuals: 186
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2746
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.43e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 5.4357e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.05e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.118e-1

GenotypeQuality
all individuals: 220
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4780
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.061149555147578e-5
allele num: 14162
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.635e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.466e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.37e-2

QD
type: SiteQuality
SIO_000300: 2.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: -1.913e0

DP
type: SiteQuality
SIO_000300: 4.69923e5