http://identifiers.org/exac.variant/19-39663819-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663819
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663819
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 10478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-397C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-397C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.466C>A
  hgvsp: ENSP00000351049.2:p.Pro156Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.466C>A
  hgvsp: ENSP00000469413.1:p.Pro156Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.466C>A
  hgvsp: ENSP00000392753.2:p.Pro156Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+73C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-397C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.466C>A
  hgvsp: ENSP00000353625.3:p.Pro156Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-397C>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15082
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro156Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

19-39663825-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663825
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663825
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 10812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-391A>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.472A>T
  hgvsp: ENSP00000351049.2:p.Lys158Ter
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.472A>T
  hgvsp: ENSP00000392753.2:p.Lys158Ter
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-391A>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.472A>T
  hgvsp: ENSP00000353625.3:p.Lys158Ter
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-391A>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.472A>T
  hgvsp: ENSP00000469413.1:p.Lys158Ter
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+79A>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-391A>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32899
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Lys158Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

19-39663829-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663829
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663829
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 11026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.476G>C
  hgvsp: ENSP00000392753.2:p.Arg159Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.476G>C
  hgvsp: ENSP00000469413.1:p.Arg159Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-387G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-387G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+83G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.476G>C
  hgvsp: ENSP00000351049.2:p.Arg159Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-387G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-387G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.476G>C
  hgvsp: ENSP00000353625.3:p.Arg159Thr
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19069
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  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 quality: GenotypeQuality
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg159Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-39663838-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663838
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663838
    reference: chr 19
allele count: 1
allele frequency: 8.535336292249915e-5
allele num: 11716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-378C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+92C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.485C>G
  hgvsp: ENSP00000351049.2:p.Ser162Cys
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-378C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.485C>G
  hgvsp: ENSP00000469413.1:p.Ser162Cys
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.485C>G
  hgvsp: ENSP00000392753.2:p.Ser162Cys
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.485C>G
  hgvsp: ENSP00000353625.3:p.Ser162Cys
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-378C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-378C>G
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser162Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

19-39663846-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663846
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663846
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 12584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-370G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.493G>C
  hgvsp: ENSP00000392753.2:p.Glu165Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-370G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-370G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.493G>C
  hgvsp: ENSP00000351049.2:p.Glu165Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.493G>C
  hgvsp: ENSP00000353625.3:p.Glu165Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.493G>C
  hgvsp: ENSP00000469413.1:p.Glu165Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-370G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+100G>C
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24677
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Glu165Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

19-39663850-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663850
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663850
    reference: chr 19
allele count: 1
allele frequency: 7.671064743786438e-5
allele num: 13036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-366G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.497G>T
  hgvsp: ENSP00000469413.1:p.Gly166Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+104G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-366G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-366G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.497G>T
  hgvsp: ENSP00000353625.3:p.Gly166Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.497G>T
  hgvsp: ENSP00000351049.2:p.Gly166Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-366G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.497G>T
  hgvsp: ENSP00000392753.2:p.Gly166Val
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25540
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly166Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-39663852-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663852
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663852
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 13362
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.499T>C
  hgvsp: ENSP00000469413.1:p.Ser167Pro
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-364T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+106T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.499T>C
  hgvsp: ENSP00000392753.2:p.Ser167Pro
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.499T>C
  hgvsp: ENSP00000351049.2:p.Ser167Pro
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-364T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-364T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-364T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.499T>C
  hgvsp: ENSP00000353625.3:p.Ser167Pro
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26204
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser167Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

19-39663854-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663854
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663854
    reference: chr 19
allele count: 1
allele frequency: 7.273785277858598e-5
allele num: 13748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+108A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-362A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-362A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.501A>G
  hgvsp: ENST00000358301.3:c.501A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-362A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-362A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.501A>G
  hgvsp: ENST00000360442.3:c.501A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.501A>G
  hgvsp: ENST00000435673.2:c.501A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.501A>G
  hgvsp: ENST00000593690.1:c.501A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23826
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  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
  all individuals: 727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22828
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser167Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP

19-39663859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663859
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663859
    reference: chr 19
allele count: 3
allele frequency: 2.047222601337519e-4
allele num: 14654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.506G>A
  hgvsp: ENSP00000353625.3:p.Gly169Asp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.506G>A
  hgvsp: ENSP00000392753.2:p.Gly169Asp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-357G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.506G>A
  hgvsp: ENSP00000351049.2:p.Gly169Asp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-357G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+113G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-357G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.506G>A
  hgvsp: ENSP00000469413.1:p.Gly169Asp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-357G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4759
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly169Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

19-39663868-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663868
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663868
    reference: chr 19
allele count: 1
allele frequency: 5.805852299117511e-5
allele num: 17224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-348A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.515A>G
  hgvsp: ENSP00000353625.3:p.Glu172Gly
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-348A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.515A>G
  hgvsp: ENSP00000392753.2:p.Glu172Gly
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-348A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.515A>G
  hgvsp: ENSP00000469413.1:p.Glu172Gly
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.515A>G
  hgvsp: ENSP00000351049.2:p.Glu172Gly
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+122A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-348A>G
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18694
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17968
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu172Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-39663872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663872
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663872
    reference: chr 19
allele count: 2
allele frequency: 1.093852548676438e-4
allele num: 18284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-344C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-344C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+126C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.519C>T
  hgvsp: ENST00000358301.3:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-344C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.519C>T
  hgvsp: ENST00000435673.2:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.519C>T
  hgvsp: ENST00000360442.3:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.519C>T
  hgvsp: ENST00000593690.1:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-344C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17014
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser173Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

19-39663875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663875
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663875
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 19280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-341C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.522C>T
  hgvsp: ENST00000593690.1:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+129C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-341C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.522C>T
  hgvsp: ENST00000358301.3:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.522C>T
  hgvsp: ENST00000435673.2:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.522C>T
  hgvsp: ENST00000360442.3:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-341C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-341C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33308
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser174Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/19-39663876-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663876
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663876
    reference: chr 19
allele count: 1
allele frequency: 5.09580105992662e-5
allele num: 19624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-340C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.523C>A
  hgvsp: ENST00000435673.2:c.523C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-340C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.523C>A
  hgvsp: ENST00000360442.3:c.523C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-340C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.523C>A
  hgvsp: ENST00000358301.3:c.523C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-340C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.523C>A
  hgvsp: ENST00000593690.1:c.523C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+130C>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33387
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  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
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14667
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg175Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

19-39663876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663876
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663876
    reference: chr 19
allele count: 6
allele frequency: 3.057480635955972e-4
allele num: 19624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.523C>T
  hgvsp: ENSP00000353625.3:p.Arg175Trp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.523C>T
  hgvsp: ENSP00000392753.2:p.Arg175Trp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.523C>T
  hgvsp: ENSP00000469413.1:p.Arg175Trp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-340C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+130C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.523C>T
  hgvsp: ENSP00000351049.2:p.Arg175Trp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-340C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-340C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-340C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33387
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Arg175Trp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

19-39663877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663877
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663877
    reference: chr 19
allele count: 5
allele frequency: 2.424830261881668e-4
allele num: 20620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-339G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+131G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.524G>A
  hgvsp: ENSP00000469413.1:p.Arg175Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.524G>A
  hgvsp: ENSP00000351049.2:p.Arg175Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.524G>A
  hgvsp: ENSP00000392753.2:p.Arg175Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.524G>A
  hgvsp: ENSP00000353625.3:p.Arg175Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-339G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-339G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-339G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33664
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg175Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

19-39663881-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663881
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663881
    reference: chr 19
allele count: 1
allele frequency: 4.424778761061947e-5
allele num: 22600
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-335C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.528C>G
  hgvsp: ENSP00000392753.2:p.Asp176Glu
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-335C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.528C>G
  hgvsp: ENSP00000351049.2:p.Asp176Glu
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-335C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.528C>G
  hgvsp: ENSP00000469413.1:p.Asp176Glu
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+135C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.528C>G
  hgvsp: ENSP00000353625.3:p.Asp176Glu
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-335C>G
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp176Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/19-39663885-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663885
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663885
    reference: chr 19
allele count: 2
allele frequency: 8.321544478655238e-5
allele num: 24034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-331C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-331C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.532C>A
  hgvsp: ENSP00000353625.3:p.Arg178Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.532C>A
  hgvsp: ENSP00000469413.1:p.Arg178Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.532C>A
  hgvsp: ENSP00000351049.2:p.Arg178Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-331C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+139C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.532C>A
  hgvsp: ENSP00000392753.2:p.Arg178Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-331C>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11438
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg178Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

19-39663886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663886
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663886
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 24996
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.533G>A
  hgvsp: ENSP00000469413.1:p.Arg178His
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.533G>A
  hgvsp: ENSP00000351049.2:p.Arg178His
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.533G>A
  hgvsp: ENSP00000353625.3:p.Arg178His
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-330G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-330G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-330G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+140G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-330G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.533G>A
  hgvsp: ENSP00000392753.2:p.Arg178His
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34935
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg178His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

19-39663887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663887
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663887
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 25876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.534C>T
  hgvsp: ENST00000435673.2:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-329C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.534C>T
  hgvsp: ENST00000358301.3:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+141C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.534C>T
  hgvsp: ENST00000593690.1:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.534C>T
  hgvsp: ENST00000360442.3:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-329C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-329C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-329C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35031
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Arg178Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

19-39663890-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663890
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663890
    reference: chr 19
allele count: 1
allele frequency: 3.623713581678504e-5
allele num: 27596
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.537C>G
  hgvsp: ENST00000435673.2:c.537C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.537C>G
  hgvsp: ENST00000360442.3:c.537C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-326C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.537C>G
  hgvsp: ENST00000593690.1:c.537C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.537C>G
  hgvsp: ENST00000358301.3:c.537C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-326C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+144C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-326C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-326C>G
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35013
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro179Pro
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-39663891-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663891
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663891
    reference: chr 19
allele count: 2
allele frequency: 7.076139258420605e-5
allele num: 28264
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.538C>A
  hgvsp: ENSP00000469413.1:p.Leu180Ile
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+145C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.538C>A
  hgvsp: ENSP00000353625.3:p.Leu180Ile
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.538C>A
  hgvsp: ENSP00000351049.2:p.Leu180Ile
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.538C>A
  hgvsp: ENSP00000392753.2:p.Leu180Ile
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-325C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-325C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-325C>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-325C>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34975
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu180Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

19-39663891-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663891
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663891
    reference: chr 19
allele count: 1
allele frequency: 3.538069629210303e-5
allele num: 28264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.538C>G
  hgvsp: ENSP00000351049.2:p.Leu180Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.538C>G
  hgvsp: ENSP00000469413.1:p.Leu180Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-325C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.538C>G
  hgvsp: ENSP00000353625.3:p.Leu180Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-325C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-325C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.538C>G
  hgvsp: ENSP00000392753.2:p.Leu180Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-325C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+145C>G
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu180Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

19-39663896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663896
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663896
    reference: chr 19
allele count: 1
allele frequency: 3.187555782226189e-5
allele num: 31372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-320C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-320C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-320C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.543C>T
  hgvsp: ENST00000360442.3:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.543C>T
  hgvsp: ENST00000358301.3:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.543C>T
  hgvsp: ENST00000593690.1:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.543C>T
  hgvsp: ENST00000435673.2:c.543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+150C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-320C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser181Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-39663897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663897
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663897
    reference: chr 19
allele count: 21
allele frequency: 6.380263717566993e-4
allele num: 32914
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.544G>A
  hgvsp: ENSP00000469413.1:p.Gly182Arg
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-319G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-319G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.544G>A
  hgvsp: ENSP00000392753.2:p.Gly182Arg
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.544G>A
  hgvsp: ENSP00000351049.2:p.Gly182Arg
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-319G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+151G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-319G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.544G>A
  hgvsp: ENSP00000353625.3:p.Gly182Arg
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34293
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8004
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly182Arg
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

19-39663899-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663899
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663899
    reference: chr 19
allele count: 2
allele frequency: 5.741187277528993e-5
allele num: 34836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-317G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.546G>T
  hgvsp: ENST00000435673.2:c.546G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-317G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.546G>T
  hgvsp: ENST00000593690.1:c.546G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-317G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+153G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.546G>T
  hgvsp: ENST00000360442.3:c.546G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-317G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.546G>T
  hgvsp: ENST00000358301.3:c.546G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33967
  bin: 7.5e0
  variant carriers: 1
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
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8088
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33130
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly182Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

19-39663905-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663905
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663905
    reference: chr 19
allele count: 1
allele frequency: 2.417093686551291e-5
allele num: 41372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.552T>C
  hgvsp: ENST00000358301.3:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-311T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-311T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-311T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-311T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+159T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.552T>C
  hgvsp: ENST00000435673.2:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.552T>C
  hgvsp: ENST00000593690.1:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.552T>C
  hgvsp: ENST00000360442.3:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp184Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

19-39663908-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663908
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663908
    reference: chr 19
allele count: 1
allele frequency: 2.314064886379414e-5
allele num: 43214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-308C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-308C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.555C>T
  hgvsp: ENST00000593690.1:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-308C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-308C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.555C>T
  hgvsp: ENST00000360442.3:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.555C>T
  hgvsp: ENST00000358301.3:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+162C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.555C>T
  hgvsp: ENST00000435673.2:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val185Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

19-39663909-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663909
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663909
    reference: chr 19
allele count: 5
allele frequency: 1.11378419317473e-4
allele num: 44892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.556G>A
  hgvsp: ENSP00000353625.3:p.Gly186Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+163G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-307G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.556G>A
  hgvsp: ENSP00000351049.2:p.Gly186Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.556G>A
  hgvsp: ENSP00000392753.2:p.Gly186Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-307G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.556G>A
  hgvsp: ENSP00000469413.1:p.Gly186Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-307G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-307G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30631
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12079
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5680
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly186Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

19-39663914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663914
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663914
    reference: chr 19
allele count: 1
allele frequency: 1.918060457265613e-5
allele num: 52136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+168C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-302C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.561C>T
  hgvsp: ENST00000435673.2:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.561C>T
  hgvsp: ENST00000360442.3:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.561C>T
  hgvsp: ENST00000358301.3:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.561C>T
  hgvsp: ENST00000593690.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-302C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-302C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-302C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr187Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

19-39663919-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663919
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663919
    reference: chr 19
allele count: 1
allele frequency: 1.690559913443332e-5
allele num: 59152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-297A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.566A>G
  hgvsp: ENSP00000392753.2:p.Gln189Arg
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-297A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.566A>G
  hgvsp: ENSP00000351049.2:p.Gln189Arg
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-297A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.566A>G
  hgvsp: ENSP00000353625.3:p.Gln189Arg
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+173A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-297A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.566A>G
  hgvsp: ENSP00000469413.1:p.Gln189Arg
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17787
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln189Arg
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

19-39663924-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663924
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663924
    reference: chr 19
allele count: 3
allele frequency: 4.711351215528614e-5
allele num: 63676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.571G>T
  hgvsp: ENSP00000353625.3:p.Ala191Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-292G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+178G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-292G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-292G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.571G>T
  hgvsp: ENSP00000351049.2:p.Ala191Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.571G>T
  hgvsp: ENSP00000469413.1:p.Ala191Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-292G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.571G>T
  hgvsp: ENSP00000392753.2:p.Ala191Ser
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala191Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

19-39663925-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663925
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663925
    reference: chr 19
allele count: 1
allele frequency: 1.547556408431087e-5
allele num: 64618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.572C>G
  hgvsp: ENSP00000351049.2:p.Ala191Gly
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+179C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-291C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-291C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.572C>G
  hgvsp: ENSP00000469413.1:p.Ala191Gly
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.572C>G
  hgvsp: ENSP00000353625.3:p.Ala191Gly
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.572C>G
  hgvsp: ENSP00000392753.2:p.Ala191Gly
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-291C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-291C>G
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20605
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala191Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

19-39663930-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663930
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663930
    reference: chr 19
allele count: 3
allele frequency: 4.297132380324863e-5
allele num: 69814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-286C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+184C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.577C>G
  hgvsp: ENSP00000353625.3:p.Leu193Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-286C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.577C>G
  hgvsp: ENSP00000392753.2:p.Leu193Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-286C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.577C>G
  hgvsp: ENSP00000351049.2:p.Leu193Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.577C>G
  hgvsp: ENSP00000469413.1:p.Leu193Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-286C>G
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20547
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu193Val
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

19-39663937-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663937
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663937
    reference: chr 19
allele count: 1
allele frequency: 1.317870321560358e-5
allele num: 75880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-279G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.584G>C
  hgvsp: ENSP00000351049.2:p.Ser195Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+191G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.584G>C
  hgvsp: ENSP00000392753.2:p.Ser195Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.584G>C
  hgvsp: ENSP00000353625.3:p.Ser195Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.584G>C
  hgvsp: ENSP00000469413.1:p.Ser195Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-279G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-279G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-279G>C
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser195Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

19-39663943-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663943
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663943
    reference: chr 19
allele count: 2
allele frequency: 2.552257471733749e-5
allele num: 78362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.590C>T
  hgvsp: ENSP00000353625.3:p.Ala197Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.590C>T
  hgvsp: ENSP00000392753.2:p.Ala197Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-273C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-273C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.590C>T
  hgvsp: ENSP00000469413.1:p.Ala197Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.590C>T
  hgvsp: ENSP00000351049.2:p.Ala197Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-273C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-273C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+197C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala197Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

19-39663944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663944
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663944
    reference: chr 19
allele count: 1
allele frequency: 1.265502404454569e-5
allele num: 79020
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.591G>A
  hgvsp: ENST00000593690.1:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.591G>A
  hgvsp: ENST00000358301.3:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-272G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.591G>A
  hgvsp: ENST00000435673.2:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-272G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-272G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-272G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+198G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.591G>A
  hgvsp: ENST00000360442.3:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala197Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

19-39663951-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663951
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663951
    reference: chr 19
allele count: 1
allele frequency: 1.223990208078335e-5
allele num: 81700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-265G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.598G>A
  hgvsp: ENSP00000392753.2:p.Ala200Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.598G>A
  hgvsp: ENSP00000351049.2:p.Ala200Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-265G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.598G>A
  hgvsp: ENSP00000353625.3:p.Ala200Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.598G>A
  hgvsp: ENSP00000469413.1:p.Ala200Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-265G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-265G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+205G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala200Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

19-39663954-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663954
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663954
    reference: chr 19
allele count: 1
allele frequency: 1.206039847556563e-5
allele num: 82916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.601G>A
  hgvsp: ENSP00000351049.2:p.Ala201Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-262G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.601G>A
  hgvsp: ENSP00000353625.3:p.Ala201Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.601G>A
  hgvsp: ENSP00000392753.2:p.Ala201Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.601G>A
  hgvsp: ENSP00000469413.1:p.Ala201Thr
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+208G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-262G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-262G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-262G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28107
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16477
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala201Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

19-39663958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663958
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663958
    reference: chr 19
allele count: 2
allele frequency: 2.357267455565508e-5
allele num: 84844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.605G>A
  hgvsp: ENSP00000351049.2:p.Gly202Asp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-258G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-258G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+212G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.605G>A
  hgvsp: ENSP00000353625.3:p.Gly202Asp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.605G>A
  hgvsp: ENSP00000469413.1:p.Gly202Asp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.605G>A
  hgvsp: ENSP00000392753.2:p.Gly202Asp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-258G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-258G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15857
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly202Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-39663960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663960
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663960
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 85398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-256C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.607C>T
  hgvsp: ENSP00000353625.3:p.Arg203Trp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.607C>T
  hgvsp: ENSP00000469413.1:p.Arg203Trp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-256C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.607C>T
  hgvsp: ENSP00000392753.2:p.Arg203Trp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-256C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.607C>T
  hgvsp: ENSP00000351049.2:p.Arg203Trp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-256C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+214C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29392
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg203Trp
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-39663961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663961
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663961
    reference: chr 19
allele count: 4
allele frequency: 4.665593580143234e-5
allele num: 85734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.608G>A
  hgvsp: ENSP00000351049.2:p.Arg203Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-255G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-255G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.608G>A
  hgvsp: ENSP00000469413.1:p.Arg203Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.608G>A
  hgvsp: ENSP00000353625.3:p.Arg203Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-255G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-255G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.608G>A
  hgvsp: ENSP00000392753.2:p.Arg203Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+215G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29515
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg203Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

19-39663968-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663968
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663968
    reference: chr 19
allele count: 13
allele frequency: 1.498455438240583e-4
allele num: 86756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-248T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.615T>C
  hgvsp: ENST00000358301.3:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.615T>C
  hgvsp: ENST00000360442.3:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+222T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-248T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.615T>C
  hgvsp: ENST00000593690.1:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-248T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.615T>C
  hgvsp: ENST00000435673.2:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-248T>C
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29804
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12574
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe205Phe
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

19-39663969-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663969
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663969
    reference: chr 19
allele count: 2
allele frequency: 2.306007148622161e-5
allele num: 86730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-247A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.616A>G
  hgvsp: ENSP00000353625.3:p.Asn206Asp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.616A>G
  hgvsp: ENSP00000392753.2:p.Asn206Asp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.616A>G
  hgvsp: ENSP00000351049.2:p.Asn206Asp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.616A>G
  hgvsp: ENSP00000469413.1:p.Asn206Asp
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+223A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-247A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-247A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-247A>G
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29728
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn206Asp
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

19-39663975-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663975
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663975
    reference: chr 19
allele count: 2
allele frequency: 2.316691764160778e-5
allele num: 86330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+229T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-241T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-241T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.622T>C
  hgvsp: ENSP00000469413.1:p.Tyr208His
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-241T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.622T>C
  hgvsp: ENSP00000392753.2:p.Tyr208His
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.622T>C
  hgvsp: ENSP00000351049.2:p.Tyr208His
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-241T>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.622T>C
  hgvsp: ENSP00000353625.3:p.Tyr208His
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29142
  bin: 2.25e1
  variant carriers: 1
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: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr208His
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-39663978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663978
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663978
    reference: chr 19
allele count: 1
allele frequency: 1.162385214460072e-5
allele num: 86030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-238C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-238C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-238C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.625C>T
  hgvsp: ENSP00000392753.2:p.Pro209Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+232C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-238C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.625C>T
  hgvsp: ENSP00000469413.1:p.Pro209Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.625C>T
  hgvsp: ENSP00000351049.2:p.Pro209Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.625C>T
  hgvsp: ENSP00000353625.3:p.Pro209Ser
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro209Ser
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

19-39663980-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663980
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663980
    reference: chr 19
allele count: 8
allele frequency: 9.323574658524078e-5
allele num: 85804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-236G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.627G>A
  hgvsp: ENST00000593690.1:c.627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-236G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.627G>A
  hgvsp: ENST00000360442.3:c.627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.627G>A
  hgvsp: ENST00000435673.2:c.627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.627G>A
  hgvsp: ENST00000358301.3:c.627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.393+234G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-236G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-236G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28626
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6439
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro209Pro
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

19-39663982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663982
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663982
    reference: chr 19
allele count: 3
allele frequency: 3.530574777573789e-5
allele num: 84972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.629G>A
  hgvsp: ENSP00000353625.3:p.Arg210Lys
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-234G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.629G>A
  hgvsp: ENSP00000469413.1:p.Arg210Lys
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.629G>A
  hgvsp: ENSP00000351049.2:p.Arg210Lys
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.629G>A
  hgvsp: ENSP00000392753.2:p.Arg210Lys
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-234G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-234G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-234G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-234G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg210Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

19-39663987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663987
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663987
    reference: chr 19
allele count: 1
allele frequency: 1.182256691572874e-5
allele num: 84584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-229G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-229G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.634G>A
  hgvsp: ENSP00000351049.2:p.Asp212Asn
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.634G>A
  hgvsp: ENSP00000353625.3:p.Asp212Asn
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.634G>A
  hgvsp: ENSP00000469413.1:p.Asp212Asn
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-229G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-229G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-229G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.634G>A
  hgvsp: ENSP00000392753.2:p.Asp212Asn
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27226
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp212Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

19-39663989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663989
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663989
    reference: chr 19
allele count: 5
allele frequency: 5.963598196607905e-5
allele num: 83842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-227C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.636C>T
  hgvsp: ENST00000435673.2:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-227C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.636C>T
  hgvsp: ENST00000360442.3:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-227C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.636C>T
  hgvsp: ENST00000593690.1:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.636C>T
  hgvsp: ENST00000358301.3:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-227C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-227C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26402
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6865
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16636
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp212Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-39663992-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663992
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663992
    reference: chr 19
allele count: 1
allele frequency: 1.204209917872884e-5
allele num: 83042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.639G>A
  hgvsp: ENST00000360442.3:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.639G>A
  hgvsp: ENST00000358301.3:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.639G>A
  hgvsp: ENST00000593690.1:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.639G>A
  hgvsp: ENST00000435673.2:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-224G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-224G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-224G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-224G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-224G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr213Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-39663999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39663999
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39663999
    reference: chr 19
allele count: 1
allele frequency: 1.248532973755837e-5
allele num: 80094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.646C>T
  hgvsp: ENSP00000351049.2:p.Pro216Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-217C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-217C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-217C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-217C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.646C>T
  hgvsp: ENSP00000469413.1:p.Pro216Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.646C>T
  hgvsp: ENSP00000392753.2:p.Pro216Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.646C>T
  hgvsp: ENSP00000353625.3:p.Pro216Ser
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-217C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro216Ser
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: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-39664006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664006
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664006
    reference: chr 19
allele count: 13
allele frequency: 1.697393847600146e-4
allele num: 76588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-210G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-210G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-210G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.653G>A
  hgvsp: ENSP00000351049.2:p.Arg218Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.653G>A
  hgvsp: ENSP00000392753.2:p.Arg218Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-210G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.653G>A
  hgvsp: ENSP00000469413.1:p.Arg218Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.653G>A
  hgvsp: ENSP00000353625.3:p.Arg218Gln
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-210G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13594
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18572
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7014
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg218Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

19-39664008-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664008
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664008
    reference: chr 19
allele count: 3
allele frequency: 3.925160277377993e-5
allele num: 76430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-208G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.655G>C
  hgvsp: ENSP00000392753.2:p.Gly219Arg
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.655G>C
  hgvsp: ENSP00000353625.3:p.Gly219Arg
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-208G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.655G>C
  hgvsp: ENSP00000351049.2:p.Gly219Arg
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-208G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-208G>C
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.655G>C
  hgvsp: ENSP00000469413.1:p.Gly219Arg
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-208G>C
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18337
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11416
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13710
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly219Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-39664008-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664008
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664008
    reference: chr 19
allele count: 1
allele frequency: 1.308386759125998e-5
allele num: 76430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-208G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.655G>T
  hgvsp: ENSP00000353625.3:p.Gly219Cys
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-208G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-208G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-208G>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.655G>T
  hgvsp: ENSP00000469413.1:p.Gly219Cys
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.655G>T
  hgvsp: ENSP00000351049.2:p.Gly219Cys
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.655G>T
  hgvsp: ENSP00000392753.2:p.Gly219Cys
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-208G>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly219Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

19-39664012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664012
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664012
    reference: chr 19
allele count: 1
allele frequency: 1.358178953658934e-5
allele num: 73628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.659C>T
  hgvsp: ENSP00000353625.3:p.Ala220Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.659C>T
  hgvsp: ENSP00000392753.2:p.Ala220Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.659C>T
  hgvsp: ENSP00000469413.1:p.Ala220Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-204C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.659C>T
  hgvsp: ENSP00000351049.2:p.Ala220Val
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-204C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-204C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-204C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-204C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  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: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7654
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23123
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala220Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

19-39664024-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664024
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664024
    reference: chr 19
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.663+8A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-192A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.663+8A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-192A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.663+8A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-192A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.663+8A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-192A>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-192A>G
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8945
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27121
  bin: 2.25e1
  variant carriers: 0
hgvs: c.663+8A>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-39664027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664027
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664027
    reference: chr 19
allele count: 1
allele frequency: 1.568086307470363e-5
allele num: 63772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.663+11C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.663+11C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.663+11C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-189C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-189C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-189C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-189C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-189C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.663+11C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19752
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15927
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9509
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6774
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

19-39664029-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664029
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664029
    reference: chr 19
allele count: 1
allele frequency: 1.620955715489853e-5
allele num: 61692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.663+13C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.663+13C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.663+13C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-187C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-187C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-187C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-187C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.663+13C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-187C>G
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9958
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9973
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

19-39664030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664030
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664030
    reference: chr 19
allele count: 53
allele frequency: 8.88307857334406e-4
allele num: 59664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-186C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-186C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-186C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.663+14C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.663+14C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.663+14C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-186C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.663+14C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-186C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16485
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10299
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 20637
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

19-39664031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664031
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664031
    reference: chr 19
allele count: 5
allele frequency: 8.873114463176575e-5
allele num: 56350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-185G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.663+15G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-185G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.663+15G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-185G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.663+15G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-185G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.663+15G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-185G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16930
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20719
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

19-39664037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664037
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664037
    reference: chr 19
allele count: 1
allele frequency: 1.864975755315181e-5
allele num: 53620
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.663+21G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-179G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.663+21G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-179G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-179G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.663+21G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.663+21G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-179G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-179G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-39664040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664040
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664040
    reference: chr 19
allele count: 1
allele frequency: 2.075377718744811e-5
allele num: 48184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-176C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-176C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-176C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-176C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.663+24C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.663+24C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.663+24C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-176C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.663+24C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

19-39664058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664058
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664058
    reference: chr 19
allele count: 2
allele frequency: 5.334186803221849e-5
allele num: 37494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-158C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.663+42C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.663+42C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-158C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.663+42C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-158C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-158C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-158C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.663+42C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

19-39664059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664059
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664059
    reference: chr 19
allele count: 1
allele frequency: 2.708559046587216e-5
allele num: 36920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-157G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.663+43G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.663+43G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-157G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-157G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-157G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.663+43G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.663+43G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-157G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24309
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15083
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4808
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

19-39664064-TCCTCTGTCCCCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664064
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664052
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 36560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25153
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4882
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: TCCTCTGTCCCCA
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

19-39664169-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664169
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664169
    reference: chr 19
allele count: 1
allele frequency: 1.045850066934404e-5
allele num: 95616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-47C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.664-47C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-47C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.664-47C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.664-47C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-47C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.664-47C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-47C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-47C>G
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13422
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5833
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4002
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-39664175-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664175
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664175
    reference: chr 19
allele count: 2
allele frequency: 2.087813432991628e-5
allele num: 95794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-41C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.664-41C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-41C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.664-41C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.664-41C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.664-41C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-41C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-41C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-41C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17813
  bin: 2.25e1
  variant carriers: 1
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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5066
  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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ

19-39664178-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664178
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664178
    reference: chr 19
allele count: 3
allele frequency: 3.130739689430623e-5
allele num: 95824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-38G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.664-38G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-38G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-38G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.664-38G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-38G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.664-38G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-38G>A
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.664-38G>A
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 1.25e1
  variant carriers: 1
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: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6095
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3675
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-39664182-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664182
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664182
    reference: chr 19
allele count: 1
allele frequency: 1.040128143787315e-5
allele num: 96142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-34C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.664-34C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-34C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.664-34C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-34C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.664-34C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.664-34C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-34C>G
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-34C>G
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9626
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 2.5e0
  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: 9.75e1
  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
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-39664182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39664182
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 39664182
    reference: chr 19
allele count: 8
allele frequency: 8.321025150298517e-5
allele num: 96142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000353625
  ensembl transcript: ENST00000360442
  gene symbol: PAK4
  hgvsc: ENST00000360442.3:c.664-34C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000392753
  ensembl transcript: ENST00000435673
  gene symbol: PAK4
  hgvsc: ENST00000435673.2:c.664-34C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471318
  ensembl transcript: ENST00000602004
  gene symbol: PAK4
  hgvsc: ENST00000602004.1:c.319-34C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000470284
  ensembl transcript: ENST00000599470
  gene symbol: PAK4
  hgvsc: ENST00000599470.1:c.205-34C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000351049
  ensembl transcript: ENST00000358301
  gene symbol: PAK4
  hgvsc: ENST00000358301.3:c.664-34C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000469413
  ensembl transcript: ENST00000593690
  gene symbol: PAK4
  hgvsc: ENST00000593690.1:c.664-34C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000471157
  ensembl transcript: ENST00000599386
  gene symbol: PAK4
  hgvsc: ENST00000599386.1:c.205-34C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000326864
  ensembl transcript: ENST00000321944
  gene symbol: PAK4
  hgvsc: ENST00000321944.4:c.394-34C>T
  variant of: http://identifiers.org/hgnc/16059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130669
  ensembl protein: ENSP00000473215
  ensembl transcript: ENST00000599657
  gene symbol: PAK4
  hgvsc: ENST00000599657.1:c.205-34C>T
  variant of: http://identifiers.org/hgnc/16059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22781
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  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: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9626
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5263
  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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 13023
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1808
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.92e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.444e0

QD
type: SiteQuality
SIO_000300: 3.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.78046e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.638e0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14892
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.95101e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.48e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3700
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.05091e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.655e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.23e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e0

GenotypeQuality
all individuals: 374
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27824
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.457002457002457e-4
allele num: 4070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.452e0

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.683e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

DP
type: SiteQuality
SIO_000300: 3.28928e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.053e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.34e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.079e0

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.52084e5

GenotypeQuality
all individuals: 3359
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24357
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2531
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.67379679144385e-3
allele num: 374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
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: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.342000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
SIO_000300: 2.632e0

DP
type: SiteQuality
SIO_000300: 3.60503e5

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 1.001e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.965e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.56e-1

DP
type: SiteQuality
SIO_000300: 3.66858e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.06e-2

QD
type: SiteQuality
SIO_000300: 5.49e0

GenotypeQuality
all individuals: 23354
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.333333333333333e-3
allele num: 750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

QD
type: SiteQuality
SIO_000300: 1.089e1

VQSLOD
type: SiteQuality
SIO_000300: -7.811e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.86e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 3.76568e5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21297
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 199
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.676470588235294e-3
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

DP
type: SiteQuality
SIO_000300: 3.87523e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.69e-2

QD
type: SiteQuality
SIO_000300: 1.058e1

VQSLOD
type: SiteQuality
SIO_000300: -1.763e0

FS
type: SiteQuality
SIO_000300: 3.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.424e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.439677512237259e-4
allele num: 6946
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.869e1

DP
type: SiteQuality
SIO_000300: 4.28183e5

VQSLOD
type: SiteQuality
SIO_000300: -1.597e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.92e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

FS
type: SiteQuality
SIO_000300: 6.245e0

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.597402597402597e-4
allele num: 7700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1100
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.304e0

DP
type: SiteQuality
SIO_000300: 4.45692e5

QD
type: SiteQuality
SIO_000300: 1.683e1

FS
type: SiteQuality
SIO_000300: 2.632e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.69e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1272
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

DP
type: SiteQuality
SIO_000300: 4.59707e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.739e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.179e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.125e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.727e1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.182592242194891e-4
allele num: 8456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1286
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1198
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.98e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 6.671e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.886e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 4.66799e5

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7312
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 4.665629860031105e-3
allele num: 1286
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1198
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.98e-2

DP
type: SiteQuality
SIO_000300: 4.66799e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

FS
type: SiteQuality
SIO_000300: 6.671e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.222716159146477e-4
allele num: 8998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 2
allele frequency: 2.701242571582928e-4
allele num: 7404
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 7.08215297450425e-4
allele num: 1412
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.147e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

MQRankSum
type: SiteQuality
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VQSLOD
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: 8.3e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.74467e5

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1362
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 1
allele frequency: 8.025682182985554e-4
allele num: 1246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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ClippingRankSum
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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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 2
allele frequency: 1.364256480218281e-3
allele num: 1466
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1374
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1730
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.113e0

DP
type: SiteQuality
SIO_000300: 5.07957e5

MQ
type: SiteQuality
SIO_000300: 5.866e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.84e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11620
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1492
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1838
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.98e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.1713e5

InbreedingCoeff
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SIO_000300: -2.76e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.521e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1908
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.061e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.652e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 7.574609907589759e-5
allele num: 13202
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1750
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.105e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 5.36918e5

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

FS
type: SiteQuality
SIO_000300: 1.132e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13608
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.493765586034913e-4
allele num: 8020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.41454e5

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.17e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

FS
type: SiteQuality
SIO_000300: 5.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 7.348618459729571e-5
allele num: 13608
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

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

FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 5.41454e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.17e-2

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2168
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.985044865403788e-4
allele num: 2006
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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MQRankSum
type: SiteQuality
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VQSLOD
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2360
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.259445843828715e-3
allele num: 794
num of homozygotes: 0

South Asian
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allele frequency: 2.045728038507822e-3
allele num: 8310
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Other
type: Population
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 1.821493624772313e-4
allele num: 16470
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2854
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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South Asian
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allele frequency: 2.364625206904706e-4
allele num: 8458
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QD
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 104
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3352
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.120322652924042e-4
allele num: 8926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.141e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.793e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 6.4913e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.55e-2

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.408004936965529e-5
allele num: 22686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.28e0

DP
type: SiteQuality
SIO_000300: 6.69813e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3792
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 7.869884575026233e-4
allele num: 3812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.2165626581211e-5
allele num: 23716
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1236
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.095770326539557e-4
allele num: 9126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.289e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

DP
type: SiteQuality
SIO_000300: 6.7792e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.111000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

Other
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: 4498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4742
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.935995302407516e-4
allele num: 3406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1524
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.63e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.196e0

DP
type: SiteQuality
SIO_000300: 7.3868e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.096550442806713e-5
allele num: 32294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5664
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.87186e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.68e-1

BaseQRankSum
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SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: -1.476e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.13e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.550906396077984e-5
allele num: 35084
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5446
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1996
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.239e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.678e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 8.28197e5

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2026
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.554243083618278e-4
allele num: 6434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4222
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.262e0

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 7.725985063095544e-5
allele num: 38830
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10656
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.8243e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 298
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GenotypeQuality
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GenotypeQuality
all individuals: 410
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GenotypeQuality
all individuals: 18
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GenotypeQuality
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GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 1405
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GenotypeQuality
all individuals: 1607
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GenotypeQuality
all individuals: 988
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.55860349127182e-4
allele num: 6416
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.843e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 9.35621e5

VQSLOD
type: SiteQuality
SIO_000300: -1.705e0

FS
type: SiteQuality
SIO_000300: 2.312e0

QD
type: SiteQuality
SIO_000300: 1.015e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.516915849857717e-5
allele num: 44278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 8.641999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.447e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

QD
type: SiteQuality
SIO_000300: 5.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.56946e5

VQSLOD
type: SiteQuality
SIO_000300: -1.673e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2812
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.238739142115161e-5
allele num: 44668
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.843e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.332e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

DP
type: SiteQuality
SIO_000300: 9.63708e5

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2976
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.453582907922102e-5
allele num: 10578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46434
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.81396e5

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.385e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.014e0

QD
type: SiteQuality
SIO_000300: 1.386e1

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

Latino
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allele count: 1
allele frequency: 1.114330287497214e-4
allele num: 8974
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3070
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.283e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

QD
type: SiteQuality
SIO_000300: 5.65e0

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

DP
type: SiteQuality
SIO_000300: 9.93875e5

FS
type: SiteQuality
SIO_000300: 2.984e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3222
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.067653626664461e-5
allele num: 48364
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.518370454978108e-5
allele num: 10506
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 540
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MQ
type: SiteQuality
SIO_000300: 5.896e1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

FS
type: SiteQuality
SIO_000300: 2.294e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.011459e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 5800
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 548
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3314
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MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
type: SiteQuality
SIO_000300: 1.031e1

FS
type: SiteQuality
SIO_000300: 4.26e0

ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.711156741957563e-4
allele num: 5844
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.041482933202678e-5
allele num: 48984
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Other
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East Asian
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South Asian
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DP
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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Latino
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East Asian
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele count: 12
allele frequency: 2.415750694528325e-4
allele num: 49674
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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QD
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SIO_000300: 1.152e1

DP
type: SiteQuality
SIO_000300: 1.026769e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.026899689928724e-5
allele num: 49666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.282e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.42e-1

FS
type: SiteQuality
SIO_000300: 9.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

DP
type: SiteQuality
SIO_000300: 1.02614e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

Latino
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allele count: 2
allele frequency: 2.071251035625518e-4
allele num: 9656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49680
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3604
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

VQSLOD
type: SiteQuality
SIO_000300: -2.653e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 5.141e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.019924e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.014666774115561e-5
allele num: 49636
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.836e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 9.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

MQ
type: SiteQuality
SIO_000300: 5.843e1

DP
type: SiteQuality
SIO_000300: 1.017536e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.034861200774693e-5
allele num: 49568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.23463687150838e-4
allele num: 8950
num of homozygotes: 1

African
type: Population
allele count: 4
allele frequency: 6.640106241699867e-4
allele num: 6024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQ
type: SiteQuality
SIO_000300: 5.883e1

FS
type: SiteQuality
SIO_000300: 7.804e0

DP
type: SiteQuality
SIO_000300: 1.017117e6

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.248e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.093597660058499e-5
allele num: 49232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6008
num of homozygotes: 0

South 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: 556
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.114e1

MQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

FS
type: SiteQuality
SIO_000300: 7.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-1

MQ
type: SiteQuality
SIO_000300: 5.833e1

DP
type: SiteQuality
SIO_000300: 1.005183e6

VQSLOD
type: SiteQuality
SIO_000300: -2.171e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.038205980066445e-4
allele num: 9632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.306e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

DP
type: SiteQuality
SIO_000300: 9.98823e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

MQ
type: SiteQuality
SIO_000300: 5.906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5976
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 1.024422225864612e-4
allele num: 48808
num of homozygotes: 0

Other
type: Population
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allele num: 542
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7266
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.088e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.87e1

DP
type: SiteQuality
SIO_000300: 9.88322e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 48406
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 7216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.052631578947368e-4
allele num: 9500
num of homozygotes: 0

African
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -3.023e0

InbreedingCoeff
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ReadPosRankSum
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MQ
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.128293534244243e-5
allele num: 46986
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

FS
type: SiteQuality
SIO_000300: 7.194e0

MQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

QD
type: SiteQuality
SIO_000300: 1.476e1

VQSLOD
type: SiteQuality
SIO_000300: -1.952e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.29e-1

DP
type: SiteQuality
SIO_000300: 9.26558e5

GenotypeQuality
all individuals: 805
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3326
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.141552511415525e-4
allele num: 8760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.620564808110065e-4
allele num: 5524
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.563966218329684e-4
allele num: 6394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45286
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.320810096859407e-3
allele num: 6814
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.024e1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

DP
type: SiteQuality
SIO_000300: 8.7441e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

GenotypeQuality
all individuals: 1180
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3318
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 5.422993492407809e-4
allele num: 5532
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6786
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 1.747e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 8.66553e5

QD
type: SiteQuality
SIO_000300: 1.01e1

GenotypeQuality
all individuals: 497
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45198
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.80766449746927e-4
allele num: 5532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6786
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3318
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 1.747e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.01e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

DP
type: SiteQuality
SIO_000300: 8.66553e5

GenotypeQuality
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 315
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.288853284504463e-5
allele num: 43690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 4.832e0

QD
type: SiteQuality
SIO_000300: 3.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 8.21694e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -2.327e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

MQ
type: SiteQuality
SIO_000300: 5.845e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.667778519012675e-4
allele num: 5996
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39766
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.89701e5

VQSLOD
type: SiteQuality
SIO_000300: -3.194e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.903e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.87e-2

QD
type: SiteQuality
SIO_000300: 1.034e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.137e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5772
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.621369403376324e-5
allele num: 38148
num of homozygotes: 0

African
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allele count: 0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.07e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.768e0

DP
type: SiteQuality
SIO_000300: 6.49609e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6888
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.701826434669837e-5
allele num: 37012
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South Asian
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African
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East Asian
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4672
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 41
allele frequency: 9.386446886446886e-3
allele num: 4368
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 5.58659217877095e-3
allele num: 358
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Latino
type: Population
allele count: 8
allele frequency: 1.201201201201201e-3
allele num: 6660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.573514658343552e-5
allele num: 35884
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

DP
type: SiteQuality
SIO_000300: 6.05763e5

QD
type: SiteQuality
SIO_000300: 1.426e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.16e-2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.472754050073638e-4
allele num: 33950
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.052e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.501e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 2.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.59e-2

DP
type: SiteQuality
SIO_000300: 5.85696e5

GenotypeQuality
all individuals: 1431
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.079576250307958e-5
allele num: 32472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.76e-1

QD
type: SiteQuality
SIO_000300: 9.1e0

VQSLOD
type: SiteQuality
SIO_000300: -1.808e0

FS
type: SiteQuality
SIO_000300: 3.127e0

MQ
type: SiteQuality
SIO_000300: 5.807e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 5.56939e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.294e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.396277679663089e-5
allele num: 29444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3690
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.794e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.944e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

DP
type: SiteQuality
SIO_000300: 5.22883e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.86e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeQuality
all individuals: 489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4008
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.576329331046312e-5
allele num: 23320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3460
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.7005e5

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.086e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.37e-2

FS
type: SiteQuality
SIO_000300: 1.619e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.93e-1

GenotypeQuality
all individuals: 4071
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4755
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 24
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3540
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.883506343713956e-4
allele num: 3468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2888
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.53e-2

DP
type: SiteQuality
SIO_000300: 4.69711e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.79e-1

FS
type: SiteQuality
SIO_000300: 6.113e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.136e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3466
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.33e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 4.196e1

DP
type: SiteQuality
SIO_000300: 4.69465e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 3485
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.289989680082559e-4
allele num: 7752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10588
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.096e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

FS
type: SiteQuality
SIO_000300: 1.0651e1

VQSLOD
type: SiteQuality
SIO_000300: -1.597e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 1.001449e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.66e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.884303749764462e-4
allele num: 10614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.257e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 8.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

DP
type: SiteQuality
SIO_000300: 1.024734e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 532
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GenotypeQuality
all individuals: 1990
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.61794500723589e-4
allele num: 8292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.041643e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.123e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.215e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.106e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

GenotypeQuality
all individuals: 835
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6149
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3884
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27187
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1959
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.400263207369807e-5
allele num: 10638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5164
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55792
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

FS
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.457e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.067071e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1