19-11098424-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098424
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098424
    reference: chr 19
allele count: 41
allele frequency: 5.059854374922868e-4
allele num: 81030
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.942G>A
  hgvsp: ENST00000429416.3:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.942G>A
  hgvsp: ENST00000358026.2:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.942G>A
  hgvsp: ENST00000344626.4:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.942G>A
  hgvsp: ENST00000450717.3:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.942G>A
  hgvsp: ENST00000413806.3:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.942G>A
  hgvsp: ENST00000541122.2:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.942G>A
  hgvsp: ENST00000589677.1:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.942G>A
  hgvsp: ENST00000444061.3:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.942G>A
  hgvsp: ENST00000590574.1:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.816G>A
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12559
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18519
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5613
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala314Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-11098424-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098424
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098424
    reference: chr 19
allele count: 1
allele frequency: 1.234110823151919e-5
allele num: 81030
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.942G>T
  hgvsp: ENST00000429416.3:c.942G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.942G>T
  hgvsp: ENST00000358026.2:c.942G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.942G>T
  hgvsp: ENST00000590574.1:c.942G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.942G>T
  hgvsp: ENST00000413806.3:c.942G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.942G>T
  hgvsp: ENST00000450717.3:c.942G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.942G>T
  hgvsp: ENST00000344626.4:c.942G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.942G>T
  hgvsp: ENST00000541122.2:c.942G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.942G>T
  hgvsp: ENST00000444061.3:c.942G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.942G>T
  hgvsp: ENST00000589677.1:c.942G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.816G>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala314Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-11098433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098433
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098433
    reference: chr 19
allele count: 3
allele frequency: 3.808653260207191e-5
allele num: 78768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.951C>T
  hgvsp: ENST00000413806.3:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.951C>T
  hgvsp: ENST00000358026.2:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.951C>T
  hgvsp: ENST00000450717.3:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.951C>T
  hgvsp: ENST00000541122.2:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.951C>T
  hgvsp: ENST00000344626.4:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.951C>T
  hgvsp: ENST00000444061.3:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.951C>T
  hgvsp: ENST00000590574.1:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.951C>T
  hgvsp: ENST00000589677.1:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.951C>T
  hgvsp: ENST00000429416.3:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.825C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13341
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala317Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

19-11098434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098434
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098434
    reference: chr 19
allele count: 13
allele frequency: 1.667222407469156e-4
allele num: 77974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.952G>A
  hgvsp: ENSP00000392837.2:p.Val318Ile
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.952G>A
  hgvsp: ENSP00000343896.4:p.Val318Ile
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.952G>A
  hgvsp: ENSP00000414727.2:p.Val318Ile
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.952G>A
  hgvsp: ENSP00000466963.1:p.Val318Ile
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.952G>A
  hgvsp: ENSP00000464778.1:p.Val318Ile
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.952G>A
  hgvsp: ENSP00000350720.2:p.Val318Ile
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.952G>A
  hgvsp: ENSP00000445036.2:p.Val318Ile
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.826G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.952G>A
  hgvsp: ENSP00000397783.2:p.Val318Ile
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.952G>A
  hgvsp: ENSP00000395654.1:p.Val318Ile
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13367
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18730
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20050
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val318Ile
num of homozygotes: 1
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

19-11098442-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098442
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098442
    reference: chr 19
allele count: 9
allele frequency: 1.19142176330421e-4
allele num: 75540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.960C>T
  hgvsp: ENST00000344626.4:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.960C>T
  hgvsp: ENST00000429416.3:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.960C>T
  hgvsp: ENST00000450717.3:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.960C>T
  hgvsp: ENST00000413806.3:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.960C>T
  hgvsp: ENST00000589677.1:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.960C>T
  hgvsp: ENST00000358026.2:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.960C>T
  hgvsp: ENST00000541122.2:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.960C>T
  hgvsp: ENST00000590574.1:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.834C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.960C>T
  hgvsp: ENST00000444061.3:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14045
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18469
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Pro320Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-11098445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098445
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098445
    reference: chr 19
allele count: 3
allele frequency: 3.987664823479371e-5
allele num: 75232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.963C>T
  hgvsp: ENST00000413806.3:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.963C>T
  hgvsp: ENST00000358026.2:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.963C>T
  hgvsp: ENST00000344626.4:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.963C>T
  hgvsp: ENST00000450717.3:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.837C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.963C>T
  hgvsp: ENST00000444061.3:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.963C>T
  hgvsp: ENST00000590574.1:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.963C>T
  hgvsp: ENST00000589677.1:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.963C>T
  hgvsp: ENST00000429416.3:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.963C>T
  hgvsp: ENST00000541122.2:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8556
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18374
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14381
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5076
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala321Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-11098451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098451
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098451
    reference: chr 19
allele count: 4
allele frequency: 5.389092476826902e-5
allele num: 74224
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.969G>A
  hgvsp: ENST00000429416.3:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.969G>A
  hgvsp: ENST00000589677.1:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.969G>A
  hgvsp: ENST00000450717.3:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.969G>A
  hgvsp: ENST00000541122.2:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.969G>A
  hgvsp: ENST00000413806.3:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.969G>A
  hgvsp: ENST00000358026.2:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.969G>A
  hgvsp: ENST00000590574.1:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.969G>A
  hgvsp: ENST00000344626.4:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.969G>A
  hgvsp: ENST00000444061.3:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.843G>A
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser323Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-11098451-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098451
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098451
    reference: chr 19
allele count: 1
allele frequency: 1.347273119206726e-5
allele num: 74224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.969G>C
  hgvsp: ENST00000590574.1:c.969G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.969G>C
  hgvsp: ENST00000541122.2:c.969G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.969G>C
  hgvsp: ENST00000344626.4:c.969G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.969G>C
  hgvsp: ENST00000429416.3:c.969G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.969G>C
  hgvsp: ENST00000444061.3:c.969G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.969G>C
  hgvsp: ENST00000589677.1:c.969G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.969G>C
  hgvsp: ENST00000413806.3:c.969G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.969G>C
  hgvsp: ENST00000358026.2:c.969G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.843G>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.969G>C
  hgvsp: ENST00000450717.3:c.969G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5675
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser323Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-11098454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098454
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098454
    reference: chr 19
allele count: 7
allele frequency: 9.324878776575905e-5
allele num: 75068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.972C>T
  hgvsp: ENST00000450717.3:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.972C>T
  hgvsp: ENST00000541122.2:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.846C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.972C>T
  hgvsp: ENST00000589677.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.972C>T
  hgvsp: ENST00000444061.3:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.972C>T
  hgvsp: ENST00000413806.3:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.972C>T
  hgvsp: ENST00000358026.2:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.972C>T
  hgvsp: ENST00000590574.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.972C>T
  hgvsp: ENST00000429416.3:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.972C>T
  hgvsp: ENST00000344626.4:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18031
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14976
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro324Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-11098461-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098461
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098461
    reference: chr 19
allele count: 1
allele frequency: 1.332090049287332e-5
allele num: 75070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.979C>A
  hgvsp: ENSP00000414727.2:p.Pro327Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.853C>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.979C>A
  hgvsp: ENSP00000343896.4:p.Pro327Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.979C>A
  hgvsp: ENSP00000466963.1:p.Pro327Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.979C>A
  hgvsp: ENSP00000350720.2:p.Pro327Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.979C>A
  hgvsp: ENSP00000395654.1:p.Pro327Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.979C>A
  hgvsp: ENSP00000464778.1:p.Pro327Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.979C>A
  hgvsp: ENSP00000392837.2:p.Pro327Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.979C>A
  hgvsp: ENSP00000445036.2:p.Pro327Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.979C>A
  hgvsp: ENSP00000397783.2:p.Pro327Thr
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15208
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17785
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5622
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro327Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-11098463-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098463
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098463
    reference: chr 19
allele count: 231
allele frequency: 3.039873667587841e-3
allele num: 75990
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.981A>C
  hgvsp: ENST00000444061.3:c.981A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.981A>C
  hgvsp: ENST00000429416.3:c.981A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.981A>C
  hgvsp: ENST00000358026.2:c.981A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.981A>C
  hgvsp: ENST00000413806.3:c.981A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.981A>C
  hgvsp: ENST00000344626.4:c.981A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.855A>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.981A>C
  hgvsp: ENST00000589677.1:c.981A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.981A>C
  hgvsp: ENST00000590574.1:c.981A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.981A>C
  hgvsp: ENST00000541122.2:c.981A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.981A>C
  hgvsp: ENST00000450717.3:c.981A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 17763
  bin: 1.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 1.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 15279
  bin: 7.5e0
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 3.75e1
  variant carriers: 2
hgvs: p.Pro327Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

19-11098465-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098465
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098465
    reference: chr 19
allele count: 1
allele frequency: 1.319156794976651e-5
allele num: 75806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.983C>T
  hgvsp: ENSP00000397783.2:p.Pro328Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.983C>T
  hgvsp: ENSP00000464778.1:p.Pro328Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.857C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.983C>T
  hgvsp: ENSP00000350720.2:p.Pro328Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.983C>T
  hgvsp: ENSP00000466963.1:p.Pro328Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.983C>T
  hgvsp: ENSP00000414727.2:p.Pro328Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.983C>T
  hgvsp: ENSP00000392837.2:p.Pro328Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.983C>T
  hgvsp: ENSP00000395654.1:p.Pro328Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.983C>T
  hgvsp: ENSP00000343896.4:p.Pro328Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.983C>T
  hgvsp: ENSP00000445036.2:p.Pro328Leu
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17665
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5631
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro328Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD

19-11098466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098466
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098466
    reference: chr 19
allele count: 1
allele frequency: 1.326365493275327e-5
allele num: 75394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.984G>A
  hgvsp: ENST00000590574.1:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.984G>A
  hgvsp: ENST00000344626.4:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.984G>A
  hgvsp: ENST00000589677.1:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.984G>A
  hgvsp: ENST00000450717.3:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.984G>A
  hgvsp: ENST00000413806.3:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.984G>A
  hgvsp: ENST00000541122.2:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.984G>A
  hgvsp: ENST00000444061.3:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.984G>A
  hgvsp: ENST00000358026.2:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.984G>A
  hgvsp: ENST00000429416.3:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.858G>A
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17608
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro328Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

19-11098468-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098468
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098468
    reference: chr 19
allele count: 1
allele frequency: 1.30821559392988e-5
allele num: 76440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.986A>G
  hgvsp: ENSP00000350720.2:p.Gln329Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.860A>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.986A>G
  hgvsp: ENSP00000397783.2:p.Gln329Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.986A>G
  hgvsp: ENSP00000392837.2:p.Gln329Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.986A>G
  hgvsp: ENSP00000395654.1:p.Gln329Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.986A>G
  hgvsp: ENSP00000466963.1:p.Gln329Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.986A>G
  hgvsp: ENSP00000343896.4:p.Gln329Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.986A>G
  hgvsp: ENSP00000414727.2:p.Gln329Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.986A>G
  hgvsp: ENSP00000464778.1:p.Gln329Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.986A>G
  hgvsp: ENSP00000445036.2:p.Gln329Arg
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5181
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln329Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-11098473-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098473
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098473
    reference: chr 19
allele count: 1
allele frequency: 1.303611002476861e-5
allele num: 76710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.865C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.991C>T
  hgvsp: ENSP00000343896.4:p.Gln331Ter
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.991C>T
  hgvsp: ENSP00000414727.2:p.Gln331Ter
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.991C>T
  hgvsp: ENSP00000397783.2:p.Gln331Ter
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.991C>T
  hgvsp: ENSP00000466963.1:p.Gln331Ter
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.991C>T
  hgvsp: ENSP00000392837.2:p.Gln331Ter
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.991C>T
  hgvsp: ENSP00000395654.1:p.Gln331Ter
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.991C>T
  hgvsp: ENSP00000464778.1:p.Gln331Ter
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.991C>T
  hgvsp: ENSP00000445036.2:p.Gln331Ter
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.991C>T
  hgvsp: ENSP00000350720.2:p.Gln331Ter
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17352
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5618
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln331Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

19-11098481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098481
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098481
    reference: chr 19
allele count: 7
allele frequency: 9.089256498818396e-5
allele num: 77014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.999C>T
  hgvsp: ENST00000413806.3:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.999C>T
  hgvsp: ENST00000589677.1:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.999C>T
  hgvsp: ENST00000344626.4:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.999C>T
  hgvsp: ENST00000444061.3:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.873C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.999C>T
  hgvsp: ENST00000590574.1:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.999C>T
  hgvsp: ENST00000358026.2:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.999C>T
  hgvsp: ENST00000450717.3:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.999C>T
  hgvsp: ENST00000541122.2:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.999C>T
  hgvsp: ENST00000429416.3:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15481
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16875
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro333Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-11098485-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098485
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098485
    reference: chr 19
allele count: 1
allele frequency: 1.277237080746928e-5
allele num: 78294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1003C>A
  hgvsp: ENSP00000397783.2:p.Gln335Lys
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1003C>A
  hgvsp: ENSP00000392837.2:p.Gln335Lys
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1003C>A
  hgvsp: ENSP00000343896.4:p.Gln335Lys
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1003C>A
  hgvsp: ENSP00000350720.2:p.Gln335Lys
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1003C>A
  hgvsp: ENSP00000464778.1:p.Gln335Lys
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.877C>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1003C>A
  hgvsp: ENSP00000414727.2:p.Gln335Lys
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1003C>A
  hgvsp: ENSP00000445036.2:p.Gln335Lys
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1003C>A
  hgvsp: ENSP00000395654.1:p.Gln335Lys
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1003C>A
  hgvsp: ENSP00000466963.1:p.Gln335Lys
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7119
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln335Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-11098488-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098488
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098488
    reference: chr 19
allele count: 1
allele frequency: 1.274794758043955e-5
allele num: 78444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.880C>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1006C>A
  hgvsp: ENSP00000397783.2:p.Pro336Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1006C>A
  hgvsp: ENSP00000414727.2:p.Pro336Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1006C>A
  hgvsp: ENSP00000466963.1:p.Pro336Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1006C>A
  hgvsp: ENSP00000350720.2:p.Pro336Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1006C>A
  hgvsp: ENSP00000464778.1:p.Pro336Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1006C>A
  hgvsp: ENSP00000392837.2:p.Pro336Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1006C>A
  hgvsp: ENSP00000395654.1:p.Pro336Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1006C>A
  hgvsp: ENSP00000343896.4:p.Pro336Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1006C>A
  hgvsp: ENSP00000445036.2:p.Pro336Thr
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19834
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro336Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

19-11098489-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098489
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098489
    reference: chr 19
allele count: 2
allele frequency: 2.52538006970049e-5
allele num: 79196
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1007C>T
  hgvsp: ENSP00000395654.1:p.Pro336Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1007C>T
  hgvsp: ENSP00000445036.2:p.Pro336Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1007C>T
  hgvsp: ENSP00000464778.1:p.Pro336Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.881C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1007C>T
  hgvsp: ENSP00000350720.2:p.Pro336Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1007C>T
  hgvsp: ENSP00000392837.2:p.Pro336Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1007C>T
  hgvsp: ENSP00000466963.1:p.Pro336Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1007C>T
  hgvsp: ENSP00000343896.4:p.Pro336Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1007C>T
  hgvsp: ENSP00000414727.2:p.Pro336Leu
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1007C>T
  hgvsp: ENSP00000397783.2:p.Pro336Leu
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16127
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro336Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

19-11098490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098490
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098490
    reference: chr 19
allele count: 1
allele frequency: 1.252379521090071e-5
allele num: 79848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1008G>A
  hgvsp: ENST00000444061.3:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1008G>A
  hgvsp: ENST00000429416.3:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1008G>A
  hgvsp: ENST00000358026.2:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.882G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1008G>A
  hgvsp: ENST00000344626.4:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1008G>A
  hgvsp: ENST00000589677.1:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1008G>A
  hgvsp: ENST00000590574.1:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1008G>A
  hgvsp: ENST00000413806.3:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1008G>A
  hgvsp: ENST00000541122.2:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1008G>A
  hgvsp: ENST00000450717.3:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro336Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

19-11098495-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098495
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098495
    reference: chr 19
allele count: 3
allele frequency: 3.672510038194105e-5
allele num: 81688
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1013A>G
  hgvsp: ENSP00000414727.2:p.Gln338Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1013A>G
  hgvsp: ENSP00000445036.2:p.Gln338Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1013A>G
  hgvsp: ENSP00000464778.1:p.Gln338Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1013A>G
  hgvsp: ENSP00000395654.1:p.Gln338Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.887A>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1013A>G
  hgvsp: ENSP00000392837.2:p.Gln338Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1013A>G
  hgvsp: ENSP00000343896.4:p.Gln338Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1013A>G
  hgvsp: ENSP00000350720.2:p.Gln338Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1013A>G
  hgvsp: ENSP00000466963.1:p.Gln338Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1013A>G
  hgvsp: ENSP00000397783.2:p.Gln338Arg
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15111
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gln338Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

19-11098499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098499
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098499
    reference: chr 19
allele count: 2
allele frequency: 2.419081716580386e-5
allele num: 82676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1017C>T
  hgvsp: ENST00000444061.3:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1017C>T
  hgvsp: ENST00000450717.3:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1017C>T
  hgvsp: ENST00000358026.2:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1017C>T
  hgvsp: ENST00000589677.1:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1017C>T
  hgvsp: ENST00000590574.1:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1017C>T
  hgvsp: ENST00000344626.4:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.891C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1017C>T
  hgvsp: ENST00000429416.3:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1017C>T
  hgvsp: ENST00000413806.3:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1017C>T
  hgvsp: ENST00000541122.2:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14262
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro339Pro
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-11098500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098500
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098500
    reference: chr 19
allele count: 4
allele frequency: 4.800422437174471e-5
allele num: 83326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1018G>A
  hgvsp: ENSP00000445036.2:p.Ala340Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1018G>A
  hgvsp: ENSP00000464778.1:p.Ala340Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1018G>A
  hgvsp: ENSP00000350720.2:p.Ala340Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.892G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1018G>A
  hgvsp: ENSP00000414727.2:p.Ala340Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1018G>A
  hgvsp: ENSP00000397783.2:p.Ala340Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1018G>A
  hgvsp: ENSP00000466963.1:p.Ala340Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1018G>A
  hgvsp: ENSP00000395654.1:p.Ala340Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1018G>A
  hgvsp: ENSP00000343896.4:p.Ala340Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1018G>A
  hgvsp: ENSP00000392837.2:p.Ala340Thr
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13836
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala340Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-11098501-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098501
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098501
    reference: chr 19
allele count: 1
allele frequency: 1.190929878048781e-5
allele num: 83968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.893C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1019C>T
  hgvsp: ENSP00000395654.1:p.Ala340Val
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1019C>T
  hgvsp: ENSP00000466963.1:p.Ala340Val
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1019C>T
  hgvsp: ENSP00000464778.1:p.Ala340Val
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1019C>T
  hgvsp: ENSP00000445036.2:p.Ala340Val
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1019C>T
  hgvsp: ENSP00000397783.2:p.Ala340Val
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1019C>T
  hgvsp: ENSP00000414727.2:p.Ala340Val
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1019C>T
  hgvsp: ENSP00000392837.2:p.Ala340Val
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1019C>T
  hgvsp: ENSP00000350720.2:p.Ala340Val
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1019C>T
  hgvsp: ENSP00000343896.4:p.Ala340Val
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14477
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala340Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

19-11098502-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098502
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098502
    reference: chr 19
allele count: 1
allele frequency: 1.179356543070101e-5
allele num: 84792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1020G>A
  hgvsp: ENST00000589677.1:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1020G>A
  hgvsp: ENST00000450717.3:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1020G>A
  hgvsp: ENST00000590574.1:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1020G>A
  hgvsp: ENST00000344626.4:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1020G>A
  hgvsp: ENST00000444061.3:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1020G>A
  hgvsp: ENST00000413806.3:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1020G>A
  hgvsp: ENST00000541122.2:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1020G>A
  hgvsp: ENST00000358026.2:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.894G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1020G>A
  hgvsp: ENST00000429416.3:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15780
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala340Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-11098511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098511
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098511
    reference: chr 19
allele count: 1
allele frequency: 1.101831243526741e-5
allele num: 90758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1029G>A
  hgvsp: ENST00000589677.1:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1029G>A
  hgvsp: ENST00000344626.4:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.903G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1029G>A
  hgvsp: ENST00000429416.3:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1029G>A
  hgvsp: ENST00000358026.2:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1029G>A
  hgvsp: ENST00000590574.1:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1029G>A
  hgvsp: ENST00000413806.3:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1029G>A
  hgvsp: ENST00000444061.3:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1029G>A
  hgvsp: ENST00000450717.3:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1029G>A
  hgvsp: ENST00000541122.2:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22775
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12869
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val343Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/19-11098512-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098512
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098512
    reference: chr 19
allele count: 1
allele frequency: 1.097309397357679e-5
allele num: 91132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1030C>A
  hgvsp: ENSP00000466963.1:p.Pro344Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1030C>A
  hgvsp: ENSP00000414727.2:p.Pro344Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1030C>A
  hgvsp: ENSP00000392837.2:p.Pro344Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1030C>A
  hgvsp: ENSP00000445036.2:p.Pro344Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1030C>A
  hgvsp: ENSP00000350720.2:p.Pro344Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.904C>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1030C>A
  hgvsp: ENSP00000464778.1:p.Pro344Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1030C>A
  hgvsp: ENSP00000395654.1:p.Pro344Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1030C>A
  hgvsp: ENSP00000397783.2:p.Pro344Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1030C>A
  hgvsp: ENSP00000343896.4:p.Pro344Thr
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24419
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro344Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

19-11098523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098523
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098523
    reference: chr 19
allele count: 1
allele frequency: 1.034425686858656e-5
allele num: 96672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1041G>A
  hgvsp: ENST00000413806.3:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1041G>A
  hgvsp: ENST00000344626.4:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1041G>A
  hgvsp: ENST00000589677.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1041G>A
  hgvsp: ENST00000590574.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1041G>A
  hgvsp: ENST00000358026.2:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.915G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1041G>A
  hgvsp: ENST00000541122.2:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1041G>A
  hgvsp: ENST00000444061.3:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1041G>A
  hgvsp: ENST00000450717.3:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1041G>A
  hgvsp: ENST00000429416.3:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27320
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12569
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln347Gln
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-11098526-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098526
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098526
    reference: chr 19
allele count: 4
allele frequency: 4.089226931648572e-5
allele num: 97818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1044G>A
  hgvsp: ENST00000344626.4:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1044G>A
  hgvsp: ENST00000444061.3:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1044G>A
  hgvsp: ENST00000589677.1:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1044G>A
  hgvsp: ENST00000590574.1:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1044G>A
  hgvsp: ENST00000358026.2:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1044G>A
  hgvsp: ENST00000429416.3:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1044G>A
  hgvsp: ENST00000541122.2:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1044G>A
  hgvsp: ENST00000413806.3:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1044G>A
  hgvsp: ENST00000450717.3:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.918G>A
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28234
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys348Lys
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-11098532-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098532
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098532
    reference: chr 19
allele count: 9
allele frequency: 8.936550491510277e-5
allele num: 100710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1050C>A
  hgvsp: ENSP00000464778.1:p.Ser350Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1050C>A
  hgvsp: ENSP00000395654.1:p.Ser350Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1050C>A
  hgvsp: ENSP00000397783.2:p.Ser350Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1050C>A
  hgvsp: ENSP00000350720.2:p.Ser350Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1050C>A
  hgvsp: ENSP00000343896.4:p.Ser350Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1050C>A
  hgvsp: ENSP00000392837.2:p.Ser350Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1050C>A
  hgvsp: ENSP00000466963.1:p.Ser350Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1050C>A
  hgvsp: ENSP00000445036.2:p.Ser350Arg
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.924C>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1050C>A
  hgvsp: ENSP00000414727.2:p.Ser350Arg
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30593
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser350Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

19-11098556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098556
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098556
    reference: chr 19
allele count: 2
allele frequency: 1.846108403485453e-5
allele num: 108336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1074G>A
  hgvsp: ENST00000589677.1:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1074G>A
  hgvsp: ENST00000590574.1:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1074G>A
  hgvsp: ENST00000358026.2:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1074G>A
  hgvsp: ENST00000541122.2:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.948G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1074G>A
  hgvsp: ENST00000429416.3:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1074G>A
  hgvsp: ENST00000444061.3:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1074G>A
  hgvsp: ENST00000450717.3:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1074G>A
  hgvsp: ENST00000413806.3:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1074G>A
  hgvsp: ENST00000344626.4:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro358Pro
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-11098558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098558
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098558
    reference: chr 19
allele count: 20
allele frequency: 1.837897445322551e-4
allele num: 108820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1076G>A
  hgvsp: ENSP00000414727.2:p.Arg359Gln
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1076G>A
  hgvsp: ENSP00000464778.1:p.Arg359Gln
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1076G>A
  hgvsp: ENSP00000397783.2:p.Arg359Gln
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1076G>A
  hgvsp: ENSP00000395654.1:p.Arg359Gln
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1076G>A
  hgvsp: ENSP00000445036.2:p.Arg359Gln
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1076G>A
  hgvsp: ENSP00000343896.4:p.Arg359Gln
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1076G>A
  hgvsp: ENSP00000466963.1:p.Arg359Gln
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1076G>A
  hgvsp: ENSP00000392837.2:p.Arg359Gln
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1076G>A
  hgvsp: ENSP00000350720.2:p.Arg359Gln
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.950G>A
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34426
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11546
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg359Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-11098565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098565
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098565
    reference: chr 19
allele count: 7
allele frequency: 6.381271878646441e-5
allele num: 109696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1083C>T
  hgvsp: ENST00000358026.2:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1083C>T
  hgvsp: ENST00000429416.3:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1083C>T
  hgvsp: ENST00000413806.3:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1083C>T
  hgvsp: ENST00000541122.2:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1083C>T
  hgvsp: ENST00000450717.3:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1083C>T
  hgvsp: ENST00000444061.3:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1083C>T
  hgvsp: ENST00000589677.1:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1083C>T
  hgvsp: ENST00000590574.1:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.957C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1083C>T
  hgvsp: ENST00000344626.4:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu361Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

19-11098566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098566
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098566
    reference: chr 19
allele count: 3
allele frequency: 2.730748225013654e-5
allele num: 109860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1084G>A
  hgvsp: ENSP00000395654.1:p.Asp362Asn
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1084G>A
  hgvsp: ENSP00000414727.2:p.Asp362Asn
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1084G>A
  hgvsp: ENSP00000392837.2:p.Asp362Asn
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1084G>A
  hgvsp: ENSP00000343896.4:p.Asp362Asn
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1084G>A
  hgvsp: ENSP00000445036.2:p.Asp362Asn
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1084G>A
  hgvsp: ENSP00000350720.2:p.Asp362Asn
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1084G>A
  hgvsp: ENSP00000464778.1:p.Asp362Asn
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1084G>A
  hgvsp: ENSP00000466963.1:p.Asp362Asn
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.958G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1084G>A
  hgvsp: ENSP00000397783.2:p.Asp362Asn
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34510
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp362Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

19-11098574-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098574
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098574
    reference: chr 19
allele count: 1
allele frequency: 9.057806923787613e-6
allele num: 110402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1092G>A
  hgvsp: ENST00000413806.3:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1092G>A
  hgvsp: ENST00000358026.2:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1092G>A
  hgvsp: ENST00000344626.4:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1092G>A
  hgvsp: ENST00000589677.1:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1092G>A
  hgvsp: ENST00000450717.3:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1092G>A
  hgvsp: ENST00000429416.3:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1092G>A
  hgvsp: ENST00000444061.3:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1092G>A
  hgvsp: ENST00000590574.1:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1092G>A
  hgvsp: ENST00000541122.2:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.966G>A
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val364Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

19-11098580-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098580
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098580
    reference: chr 19
allele count: 3
allele frequency: 2.715472763808179e-5
allele num: 110478
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1098C>G
  hgvsp: ENSP00000397783.2:p.Ile366Met
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1098C>G
  hgvsp: ENSP00000343896.4:p.Ile366Met
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1098C>G
  hgvsp: ENSP00000466963.1:p.Ile366Met
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.972C>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1098C>G
  hgvsp: ENSP00000445036.2:p.Ile366Met
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1098C>G
  hgvsp: ENSP00000464778.1:p.Ile366Met
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1098C>G
  hgvsp: ENSP00000395654.1:p.Ile366Met
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1098C>G
  hgvsp: ENSP00000414727.2:p.Ile366Met
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1098C>G
  hgvsp: ENSP00000350720.2:p.Ile366Met
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1098C>G
  hgvsp: ENSP00000392837.2:p.Ile366Met
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile366Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-11098580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098580
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098580
    reference: chr 19
allele count: 16
allele frequency: 1.448252140697695e-4
allele num: 110478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1098C>T
  hgvsp: ENST00000450717.3:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.972C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1098C>T
  hgvsp: ENST00000541122.2:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1098C>T
  hgvsp: ENST00000590574.1:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1098C>T
  hgvsp: ENST00000589677.1:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1098C>T
  hgvsp: ENST00000358026.2:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1098C>T
  hgvsp: ENST00000413806.3:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1098C>T
  hgvsp: ENST00000444061.3:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1098C>T
  hgvsp: ENST00000429416.3:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1098C>T
  hgvsp: ENST00000344626.4:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41490
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile366Ile
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

19-11098581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098581
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098581
    reference: chr 19
allele count: 12
allele frequency: 1.085638807968589e-4
allele num: 110534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1099C>T
  hgvsp: ENST00000358026.2:c.1099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1099C>T
  hgvsp: ENST00000541122.2:c.1099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1099C>T
  hgvsp: ENST00000589677.1:c.1099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1099C>T
  hgvsp: ENST00000429416.3:c.1099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1099C>T
  hgvsp: ENST00000344626.4:c.1099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1099C>T
  hgvsp: ENST00000450717.3:c.1099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1099C>T
  hgvsp: ENST00000413806.3:c.1099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1099C>T
  hgvsp: ENST00000590574.1:c.1099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.973C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1099C>T
  hgvsp: ENST00000444061.3:c.1099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34164
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12447
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5426
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu367Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

19-11098583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098583
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098583
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 110506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1101G>A
  hgvsp: ENST00000444061.3:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1101G>A
  hgvsp: ENST00000429416.3:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1101G>A
  hgvsp: ENST00000541122.2:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1101G>A
  hgvsp: ENST00000358026.2:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1101G>A
  hgvsp: ENST00000589677.1:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1101G>A
  hgvsp: ENST00000590574.1:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.975G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1101G>A
  hgvsp: ENST00000413806.3:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1101G>A
  hgvsp: ENST00000450717.3:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1101G>A
  hgvsp: ENST00000344626.4:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12511
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Leu367Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

19-11098586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098586
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098586
    reference: chr 19
allele count: 3
allele frequency: 2.711790866688361e-5
allele num: 110628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1104G>A
  hgvsp: ENST00000590574.1:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1104G>A
  hgvsp: ENST00000344626.4:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1104G>A
  hgvsp: ENST00000429416.3:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.978G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1104G>A
  hgvsp: ENST00000413806.3:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1104G>A
  hgvsp: ENST00000589677.1:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1104G>A
  hgvsp: ENST00000444061.3:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1104G>A
  hgvsp: ENST00000541122.2:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1104G>A
  hgvsp: ENST00000358026.2:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1104G>A
  hgvsp: ENST00000450717.3:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33905
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln368Gln
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

19-11098592-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098592
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098592
    reference: chr 19
allele count: 2
allele frequency: 1.808645324651836e-5
allele num: 110580
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1110C>T
  hgvsp: ENST00000429416.3:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1110C>T
  hgvsp: ENST00000413806.3:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1110C>T
  hgvsp: ENST00000344626.4:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1110C>T
  hgvsp: ENST00000358026.2:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1110C>T
  hgvsp: ENST00000450717.3:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1110C>T
  hgvsp: ENST00000589677.1:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1110C>T
  hgvsp: ENST00000541122.2:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1110C>T
  hgvsp: ENST00000590574.1:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.984C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1110C>T
  hgvsp: ENST00000444061.3:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg370Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-11098595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098595
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098595
    reference: chr 19
allele count: 1
allele frequency: 9.053214796574263e-6
allele num: 110458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1113G>A
  hgvsp: ENST00000413806.3:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1113G>A
  hgvsp: ENST00000444061.3:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1113G>A
  hgvsp: ENST00000429416.3:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1113G>A
  hgvsp: ENST00000590574.1:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1113G>A
  hgvsp: ENST00000589677.1:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1113G>A
  hgvsp: ENST00000358026.2:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.987G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1113G>A
  hgvsp: ENST00000541122.2:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1113G>A
  hgvsp: ENST00000344626.4:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1113G>A
  hgvsp: ENST00000450717.3:c.1113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4527
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu371Glu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP

19-11098596-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098596
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098596
    reference: chr 19
allele count: 1133
allele frequency: 1.024745848558301e-2
allele num: 110564
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1114T>C
  hgvsp: ENSP00000466963.1:p.Tyr372His
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1114T>C
  hgvsp: ENSP00000464778.1:p.Tyr372His
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1114T>C
  hgvsp: ENSP00000392837.2:p.Tyr372His
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1114T>C
  hgvsp: ENSP00000395654.1:p.Tyr372His
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1114T>C
  hgvsp: ENSP00000445036.2:p.Tyr372His
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1114T>C
  hgvsp: ENSP00000414727.2:p.Tyr372His
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1114T>C
  hgvsp: ENSP00000350720.2:p.Tyr372His
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1114T>C
  hgvsp: ENSP00000343896.4:p.Tyr372His
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1114T>C
  hgvsp: ENSP00000397783.2:p.Tyr372His
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.988T>C
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 1.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 12692
  bin: 2.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 32336
  bin: 2.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.25e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
hgvs: p.Tyr372His
num of homozygotes: 13
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

19-11098604-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098604
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098603
    reference: chr 19
allele count: 2
allele frequency: 1.818082650037271e-5
allele num: 110006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1118+7delG
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1118+7delG
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1118+7delG
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.992+7delG
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1118+7delG
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1118+7delG
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1118+7delG
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1118+7delG
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1118+7delG
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1118+7delG
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12795
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1118+7delG
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AG
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-11098608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098608
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098608
    reference: chr 19
allele count: 1
allele frequency: 9.115604091083115e-6
allele num: 109702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1118+8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1118+8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1118+8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1118+8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.992+8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1118+8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1118+8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1118+8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1118+8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1118+8C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12558
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1118+8C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-11098609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098609
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098609
    reference: chr 19
allele count: 2
allele frequency: 1.824018677951262e-5
allele num: 109648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1118+9G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1118+9G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1118+9G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1118+9G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1118+9G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1118+9G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1118+9G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1118+9G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1118+9G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.992+9G>A
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS

19-11098612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098612
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098612
    reference: chr 19
allele count: 2
allele frequency: 1.827585576694629e-5
allele num: 109434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1118+12G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1118+12G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1118+12G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.992+12G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1118+12G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1118+12G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1118+12G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1118+12G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1118+12G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1118+12G>A
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

19-11098615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098615
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098615
    reference: chr 19
allele count: 4
allele frequency: 3.65744381251943e-5
allele num: 109366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1118+15C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1118+15C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1118+15C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1118+15C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1118+15C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1118+15C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1118+15C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.992+15C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1118+15C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1118+15C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12345
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

19-11098617-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098617
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098618
    reference: chr 19
allele count: 2
allele frequency: 1.830764160960785e-5
allele num: 109244
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1118+19dupT
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1118+19dupT
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1118+19dupT
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1118+19dupT
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1118+19dupT
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.992+19dupT
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1118+19dupT
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1118+19dupT
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1118+19dupT
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1118+19dupT
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35441
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

19-11098622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098622
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098622
    reference: chr 19
allele count: 1
allele frequency: 9.177342975661686e-6
allele num: 108964
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1118+22C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1118+22C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1118+22C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1118+22C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.992+22C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1118+22C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1118+22C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1118+22C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1118+22C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1118+22C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11805
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-11098626-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098626
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098626
    reference: chr 19
allele count: 2
allele frequency: 1.838776110620771e-5
allele num: 108768
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1118+26G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1118+26G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1118+26G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1118+26G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1118+26G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.992+26G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1118+26G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1118+26G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1118+26G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1118+26G>A
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11322
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

19-11098632-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098632
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098632
    reference: chr 19
allele count: 1
allele frequency: 9.238899462296052e-6
allele num: 108238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1118+32G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1118+32G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1118+32G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.992+32G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1118+32G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1118+32G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1118+32G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1118+32G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1118+32G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1118+32G>A
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

19-11098635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098635
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098635
    reference: chr 19
allele count: 1
allele frequency: 9.280225695088904e-6
allele num: 107756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1118+35C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1118+35C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1118+35C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.992+35C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1118+35C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1118+35C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1118+35C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1118+35C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1118+35C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1118+35C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11745
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5952
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

19-11098640-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098640
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098639
    reference: chr 19
allele count: 2
allele frequency: 1.896741398277759e-5
allele num: 105444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1118+45delC
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1118+45delC
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1118+45delC
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1118+45delC
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.992+45delC
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1118+45delC
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1118+45delC
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1118+45delC
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1118+45delC
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1118+45delC
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14769
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: TC
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

19-11098643-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098643
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098643
    reference: chr 19
allele count: 1
allele frequency: 9.460200934667853e-6
allele num: 105706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1118+43C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1118+43C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1118+43C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1118+43C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1118+43C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1118+43C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1118+43C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1118+43C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1118+43C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.992+43C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14631
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

19-11098647-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098647
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098647
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 104924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1118+47T>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1118+47T>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1118+47T>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1118+47T>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1118+47T>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1118+47T>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1118+47T>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1118+47T>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1118+47T>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.992+47T>G
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

19-11098648-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11098648
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11098648
    reference: chr 19
allele count: 2
allele frequency: 1.927153594141453e-5
allele num: 103780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1118+48G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1118+48G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1118+48G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.992+48G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1118+48G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1118+48G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1118+48G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1118+48G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1118+48G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1118+48G>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14433
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16107
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7097
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

19-11099948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11099948
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11099948
    reference: chr 19
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.993-45C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1119-45C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1119-45C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1119-45C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1119-45C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1119-45C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1119-45C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1119-45C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1119-45C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1119-45C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

19-11099949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11099949
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11099949
    reference: chr 19
allele count: 14
allele frequency: 1.154524912998301e-4
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1119-44C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1119-44C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1119-44C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1119-44C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1119-44C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.993-44C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1119-44C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1119-44C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1119-44C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1119-44C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
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: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/19-11099954-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11099954
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11099954
    reference: chr 19
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1119-39A>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.993-39A>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1119-39A>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1119-39A>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1119-39A>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1119-39A>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1119-39A>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1119-39A>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1119-39A>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1119-39A>C
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

19-11099960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11099960
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11099960
    reference: chr 19
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1119-33C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1119-33C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1119-33C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1119-33C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1119-33C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1119-33C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1119-33C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1119-33C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.993-33C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1119-33C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3774
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-11099965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11099965
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11099965
    reference: chr 19
allele count: 91
allele frequency: 7.503669376783152e-4
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1119-28C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1119-28C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1119-28C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.993-28C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1119-28C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1119-28C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1119-28C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1119-28C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1119-28C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1119-28C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8208
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7043
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6075
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

19-11099966-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11099966
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11099966
    reference: chr 19
allele count: 10
allele frequency: 8.246062505153789e-5
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1119-27G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1119-27G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1119-27G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1119-27G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1119-27G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1119-27G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1119-27G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1119-27G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.993-27G>A
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1119-27G>A
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3933
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 8.25e1
  variant carriers: 0
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: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-11099967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11099967
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11099967
    reference: chr 19
allele count: 3
allele frequency: 2.473777953690877e-5
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1119-26C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1119-26C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1119-26C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1119-26C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1119-26C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.993-26C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1119-26C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1119-26C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1119-26C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1119-26C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35243
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-11099979-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11099979
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11099979
    reference: chr 19
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1119-14G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1119-14G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1119-14G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.993-14G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1119-14G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1119-14G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1119-14G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1119-14G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1119-14G>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1119-14G>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

19-11099981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11099981
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11099981
    reference: chr 19
allele count: 156
allele frequency: 1.286173633440514e-3
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.993-12C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1119-12C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1119-12C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1119-12C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1119-12C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1119-12C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1119-12C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1119-12C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1119-12C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1119-12C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 9.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8208
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 3
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

19-11099983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11099983
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11099983
    reference: chr 19
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1119-10C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1119-10C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1119-10C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1119-10C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1119-10C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1119-10C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1119-10C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.993-10C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1119-10C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1119-10C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-11099987-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11099987
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11099987
    reference: chr 19
allele count: 7
allele frequency: 5.771006463527239e-5
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1119-6T>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1119-6T>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1119-6T>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.993-6T>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1119-6T>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1119-6T>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1119-6T>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1119-6T>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1119-6T>C
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1119-6T>C
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1119-6T>C
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

19-11099990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11099990
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11099990
    reference: chr 19
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.1119-3C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.1119-3C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl transcript: ENST00000591545
  gene symbol: SMARCA4
  hgvsc: ENST00000591545.1:n.993-3C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.1119-3C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.1119-3C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.1119-3C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.1119-3C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.1119-3C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.1119-3C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.1119-3C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1119-3C>T
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 382
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5599
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1631
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19281
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7297
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2999
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2028
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5348
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 636
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.272210861167916e-5
allele num: 44010
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

South Asian
type: Population
allele count: 40
allele frequency: 2.959893443836022e-3
allele num: 13514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2948
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.333e0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

FS
type: SiteQuality
SIO_000300: 4.052e0

DP
type: SiteQuality
SIO_000300: 9.04642e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeQuality
all individuals: 2028
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19281
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5599
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1220
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2999
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5613
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7297
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5348
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.272210861167916e-5
allele num: 44010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5426
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.333e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 9.04642e5

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

FS
type: SiteQuality
SIO_000300: 4.052e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5948
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6619
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5599
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1983
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5831
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3098
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 974
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19784
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.671122994652406e-4
allele num: 5984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5150
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.21921482565228e-4
allele num: 8202
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.341043168836033e-5
allele num: 42716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13380
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.53e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.67139e5

QD
type: SiteQuality
SIO_000300: 9.9e0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1162
bin: 2.5e0
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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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 2

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: 513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 9.75e1
variant carriers: 11

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.517391959042313e-4
allele num: 13282
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 1.237011380504701e-4
allele num: 8084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.420925496139819e-4
allele num: 42226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

DP
type: SiteQuality
SIO_000300: 8.67062e5

FS
type: SiteQuality
SIO_000300: 1.6765e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

QD
type: SiteQuality
SIO_000300: 1.481e1

VQSLOD
type: SiteQuality
SIO_000300: -2.053e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 2930
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1172
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
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variant carriers: 0

GenotypeQuality
all individuals: 946
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variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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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: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5950
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 4810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 333
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variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 7.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 2.193623866627669e-4
allele num: 41028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13132
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2626
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.67e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 2.376e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 8.40551e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

GenotypeQuality
all individuals: 1137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3186
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variant carriers: 0

GenotypeQuality
all individuals: 265
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variant carriers: 0

GenotypeQuality
all individuals: 300
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variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
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variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 19327
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variant carriers: 0

GenotypeQuality
all individuals: 492
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variant carriers: 0

GenotypeQuality
all individuals: 1970
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variant carriers: 0

GenotypeQuality
all individuals: 5944
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variant carriers: 0

GenotypeQuality
all individuals: 5966
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 844
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5713
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.774937877174299e-4
allele num: 5634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2626
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4786
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.526717557251908e-4
allele num: 13100
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQ
type: SiteQuality
SIO_000300: 5.927e1

QD
type: SiteQuality
SIO_000300: 1.385e1

DP
type: SiteQuality
SIO_000300: 8.37413e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.65e-2

FS
type: SiteQuality
SIO_000300: 1.064e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

GenotypeQuality
all individuals: 701
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5856
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 2.5e0
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GenotypeQuality
all individuals: 5592
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2283
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5807
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20060
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 982
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.479543763947434e-5
allele num: 40330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.303439803439804e-4
allele num: 13024
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.37361e5

FS
type: SiteQuality
SIO_000300: 1.478e0

QD
type: SiteQuality
SIO_000300: 1.121e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.063e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

GenotypeQuality
all individuals: 1296
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5807
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5592
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
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GenotypeQuality
all individuals: 1732
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 475
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variant carriers: 0

GenotypeQuality
all individuals: 601
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variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5856
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2283
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.479543763947434e-5
allele num: 40330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

FS
type: SiteQuality
SIO_000300: 1.478e0

DP
type: SiteQuality
SIO_000300: 8.37361e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.063e0

QD
type: SiteQuality
SIO_000300: 1.121e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 617
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
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: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 910
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 6.263048016701461e-4
allele num: 4790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.335322020636706e-5
allele num: 40898
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.633587786259542e-5
allele num: 13100
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.295e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

DP
type: SiteQuality
SIO_000300: 8.43606e5

FS
type: SiteQuality
SIO_000300: 1.673e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

GenotypeQuality
all individuals: 886
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1311
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 7063
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5458
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.445705341420466e-5
allele num: 40888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13054
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

QD
type: SiteQuality
SIO_000300: 1.035e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

FS
type: SiteQuality
SIO_000300: 6.553e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

DP
type: SiteQuality
SIO_000300: 8.50661e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.866e0

GenotypeQuality
all individuals: 5628
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 4.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 2

GenotypeQuality
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bin: 1.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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bin: 8.25e1
variant carriers: 6

GenotypeQuality
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bin: 7.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 761
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1404
bin: 9.75e1
variant carriers: 228

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.762227238525207e-4
allele num: 2658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 6.5359477124183e-4
allele num: 7650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 167
allele frequency: 4.028756151693525e-3
allele num: 41452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4854
num of homozygotes: 0

South Asian
type: Population
allele count: 58
allele frequency: 4.403948367501898e-3
allele num: 13170
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.02e-1

FS
type: SiteQuality
SIO_000300: 1.207e0

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

DP
type: SiteQuality
SIO_000300: 8.56484e5

QD
type: SiteQuality
SIO_000300: 8.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1195
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variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.416743196867901e-5
allele num: 41378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.41e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

DP
type: SiteQuality
SIO_000300: 8.54952e5

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

GenotypeQuality
all individuals: 473
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variant carriers: 0

GenotypeQuality
all individuals: 623
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 21300
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variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41116
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.778726431874778e-4
allele num: 5622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4800
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.277e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 8.56595e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
all individuals: 652
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 879
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GenotypeQuality
all individuals: 477
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13208
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.400153609831029e-5
allele num: 41664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.102e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.645e0

VQSLOD
type: SiteQuality
SIO_000300: -2.515e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

QD
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 8.59278e5

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 3052
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variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.386179249785244e-5
allele num: 41908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.524e0

DP
type: SiteQuality
SIO_000300: 8.6382e5

MQ
type: SiteQuality
SIO_000300: 5.875e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.107e1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-2

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.372479240806643e-5
allele num: 42150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5764
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 1.022076860179885e-3
allele num: 4892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13254
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.299376299376299e-4
allele num: 7696
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.035e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

FS
type: SiteQuality
SIO_000300: 2.2147e1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.80375e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.334267040149393e-5
allele num: 42840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

DP
type: SiteQuality
SIO_000300: 8.92647e5

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.319e0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.008e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.328614008941878e-5
allele num: 42944
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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ReadPosRankSum
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DP
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.21e-2

MQ
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SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 4.538e0

QD
type: SiteQuality
SIO_000300: 1.301e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
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SIO_000300: 1.45e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7890
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.609994468006638e-5
allele num: 43384
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 2824
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -9.350000000000001e-1

MQ
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VQSLOD
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FS
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-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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GenotypeQuality
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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: 2874
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43778
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.65508109897385e-4
allele num: 6042
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 546
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BaseQRankSum
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SIO_000300: -3.166e0

MQ
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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DP
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SIO_000300: 9.16999e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.19e-1

MQRankSum
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SIO_000300: 6.6e-2

VQSLOD
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QD
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SIO_000300: 1.282e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
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European (Finnish)
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allele count: 1
allele frequency: 3.309066843150232e-4
allele num: 3022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.46548182548897e-5
allele num: 44788
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5320
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Latino
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.572e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

FS
type: SiteQuality
SIO_000300: 2.2e0

VQSLOD
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SIO_000300: -2.742e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

DP
type: SiteQuality
SIO_000300: 9.40522e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.584283903675539e-4
allele num: 6312
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3106
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 7.293946024799416e-5
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45354
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FS
type: SiteQuality
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.187417971826057e-5
allele num: 45716
num of homozygotes: 0

Latino
type: Population
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allele frequency: 1.21036068748487e-4
allele num: 8262
num of homozygotes: 0

African
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 2
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allele num: 6424
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Other
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South Asian
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BaseQRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 2.169762194063531e-5
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African
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Latino
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East Asian
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South Asian
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FS
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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African
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Other
type: Population
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Latino
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European (Non-Finnish)
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allele num: 46564
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FS
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DP
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
all individuals: 383
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.5e0
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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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variant carriers: 1

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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bin: 3.75e1
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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: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.999840012798976e-5
allele num: 50004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.669e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 2.039e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 7.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.101428e6

VQSLOD
type: SiteQuality
SIO_000300: -2.27e-1

GenotypeQuality
all individuals: 286
bin: 8.75e1
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.991079961771265e-5
allele num: 50224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.885e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.108119e6

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.742e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

QD
type: SiteQuality
SIO_000300: 1.321e1

GenotypeQuality
all individuals: 376
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variant carriers: 0

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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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
all individuals: 571
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53400
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.331912626531699e-4
allele num: 7508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.191261e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.62e-1

FS
type: SiteQuality
SIO_000300: 2.236e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.546e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e-1

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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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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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variant carriers: 0

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: 676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14556
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.007861318282604e-4
allele num: 9922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.551648839705393e-5
allele num: 54038
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.208415e6

QD
type: SiteQuality
SIO_000300: 1.054e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.24e-1

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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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: 3.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7090
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.79430129907414e-5
allele num: 55732
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4394
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 7.860090391039497e-4
allele num: 10178
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

DP
type: SiteQuality
SIO_000300: 1.250545e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e0

FS
type: SiteQuality
SIO_000300: 7.158e0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

GenotypeQuality
all individuals: 314
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variant carriers: 0

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

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: 8262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.336447350860804e-5
allele num: 59944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.349511e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 2.907e0

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 19

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 330
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.325504136075213e-4
allele num: 60202
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.288825879623663e-4
allele num: 15518
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.460024600246002e-4
allele num: 8130
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.85013876040703e-4
allele num: 10810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5114
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.35677e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

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
all individuals: 292
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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: 331
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variant carriers: 0

GenotypeQuality
all individuals: 381
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variant carriers: 0

Latino
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allele count: 0
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African
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allele count: 4
allele frequency: 4.833252779120348e-4
allele num: 8276
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5206
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.415191172696946e-5
allele num: 15588
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.204529029149603e-4
allele num: 8302
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.648478454386601e-5
allele num: 60662
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

MQ
type: SiteQuality
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DP
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QD
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SIO_000300: 9.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
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SIO_000300: 4.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.645873794397446e-5
allele num: 60758
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5220
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.174311926605505e-5
allele num: 10900
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.203659123736158e-4
allele num: 8308
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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DP
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SIO_000300: 1.367526e6

MQRankSum
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SIO_000300: 1.06e-1

ClippingRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.923e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.397134083930399e-5
allele num: 15632
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8402
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5254
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East Asian
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allele count: 0
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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BaseQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
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QD
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MQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 8.85e-1

ReadPosRankSum
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SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.159186664224217e-5
allele num: 10918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.271930111572817e-5
allele num: 61126
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

VQSLOD
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SIO_000300: 9.71e-1

MQRankSum
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SIO_000300: -3.24e-1

ReadPosRankSum
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DP
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SIO_000300: 1.37268e6

FS
type: SiteQuality
SIO_000300: 1.744e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.46e0

QD
type: SiteQuality
SIO_000300: 1.165e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5254
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.022364217252396e-3
allele num: 15650
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61126
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

FS
type: SiteQuality
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DP
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-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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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: 10922
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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: 12
allele frequency: 1.962451756394322e-4
allele num: 61148
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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Latino
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FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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allele frequency: 1.830161054172767e-4
allele num: 10928
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East Asian
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Other
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European (Non-Finnish)
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allele count: 1
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allele num: 61184
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European (Finnish)
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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MQRankSum
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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
all individuals: 769
bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 393
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5629
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41510
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.270218123548841e-5
allele num: 61158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15626
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.527e0

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

QD
type: SiteQuality
SIO_000300: 1.007e1

VQSLOD
type: SiteQuality
SIO_000300: -1.112e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

DP
type: SiteQuality
SIO_000300: 1.370559e6

GenotypeQuality
all individuals: 5844
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 1202
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61110
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.406970784213224e-5
allele num: 15608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.003e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.232e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

FS
type: SiteQuality
SIO_000300: 5.253e0

DP
type: SiteQuality
SIO_000300: 1.365094e6

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 91
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 785
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 795
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 186
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5776
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 3

GenotypeQuality
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bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 40558
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1136
bin: 7.75e1
variant carriers: 5

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4413
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 207
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2294
bin: 9.75e1
variant carriers: 1103

GenotypeQuality
all individuals: 328
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1186
bin: 7.25e1
variant carriers: 3

African
type: Population
allele count: 32
allele frequency: 3.77447511205473e-3
allele num: 8478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

South Asian
type: Population
allele count: 45
allele frequency: 2.881659836065574e-3
allele num: 15616
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 28
allele frequency: 5.325218714340053e-3
allele num: 5258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 889
allele frequency: 1.453231765128976e-2
allele num: 61174
num of homozygotes: 8

Latino
type: Population
allele count: 134
allele frequency: 1.227331013006045e-2
allele num: 10918
num of homozygotes: 4

Other
type: Population
allele count: 5
allele frequency: 6.41025641025641e-3
allele num: 780
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 5.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

DP
type: SiteQuality
SIO_000300: 1.382287e6

QD
type: SiteQuality
SIO_000300: 1.256e1

GenotypeQuality
all individuals: 1134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4388
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1016
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39187
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variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
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variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.5e0
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GenotypeQuality
all individuals: 6687
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variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.285690816494168e-5
allele num: 60870
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.98e0

FS
type: SiteQuality
SIO_000300: 5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

MQ
type: SiteQuality
SIO_000300: 6.014e1

DP
type: SiteQuality
SIO_000300: 1.347678e6

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 390
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
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variant carriers: 0

GenotypeQuality
all individuals: 38072
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
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variant carriers: 0

GenotypeQuality
all individuals: 1115
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variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 299
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variant carriers: 0

GenotypeQuality
all individuals: 621
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variant carriers: 0

GenotypeQuality
all individuals: 576
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variant carriers: 0

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 7057
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 200
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15522
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.646361540994402e-5
allele num: 60740
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.246e1

VQSLOD
type: SiteQuality
SIO_000300: -5.629e-1

DP
type: SiteQuality
SIO_000300: 1.338021e6

MQ
type: SiteQuality
SIO_000300: 5.878e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

FS
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

GenotypeQuality
all individuals: 655
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
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variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 7.5e0
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GenotypeQuality
all individuals: 213
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
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variant carriers: 0

GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 4269
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variant carriers: 0

GenotypeQuality
all individuals: 1146
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variant carriers: 0

GenotypeQuality
all individuals: 1111
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GenotypeQuality
all individuals: 1357
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GenotypeQuality
all individuals: 38054
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
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GenotypeQuality
all individuals: 232
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variant carriers: 0

GenotypeQuality
all individuals: 318
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variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.254118082546733e-5
allele num: 10806
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.439979392065946e-5
allele num: 15528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.21e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.334996e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

FS
type: SiteQuality
SIO_000300: 8.567e0

GenotypeQuality
all individuals: 644
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7624
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
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GenotypeQuality
all individuals: 1555
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GenotypeQuality
all individuals: 710
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GenotypeQuality
all individuals: 1475
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GenotypeQuality
all individuals: 236
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variant carriers: 0

GenotypeQuality
all individuals: 238
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GenotypeQuality
all individuals: 1225
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variant carriers: 2

GenotypeQuality
all individuals: 36924
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GenotypeQuality
all individuals: 1082
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GenotypeQuality
all individuals: 282
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GenotypeQuality
all individuals: 522
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GenotypeQuality
all individuals: 368
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GenotypeQuality
all individuals: 1125
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GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.649892756970797e-5
allele num: 60610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.448284756254837e-5
allele num: 15508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.021e0

VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

FS
type: SiteQuality
SIO_000300: 1.197e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

DP
type: SiteQuality
SIO_000300: 1.323423e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
all individuals: 1058
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1635
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GenotypeQuality
all individuals: 232
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 249
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GenotypeQuality
all individuals: 1683
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 404
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GenotypeQuality
all individuals: 757
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GenotypeQuality
all individuals: 633
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GenotypeQuality
all individuals: 4128
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GenotypeQuality
all individuals: 1226
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variant carriers: 5

GenotypeQuality
all individuals: 367
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variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.578981302385558e-4
allele num: 15510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10782
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

FS
type: SiteQuality
SIO_000300: 3.516e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.718e0

QD
type: SiteQuality
SIO_000300: 1.216e1

DP
type: SiteQuality
SIO_000300: 1.316359e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.75e1
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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10762
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.422480620155039e-4
allele num: 8256
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

FS
type: SiteQuality
SIO_000300: 1.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.303865e6

MQ
type: SiteQuality
SIO_000300: 6.004e1

QD
type: SiteQuality
SIO_000300: 1.14e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

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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GenotypeQuality
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GenotypeQuality
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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: 15446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.657330372236402e-5
allele num: 60338
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10746
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.032e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.79e-1

FS
type: SiteQuality
SIO_000300: 2.378e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.279538e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.314456035767511e-5
allele num: 10736
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.302083333333333e-3
allele num: 768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5032
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

DP
type: SiteQuality
SIO_000300: 1.257813e6

QD
type: SiteQuality
SIO_000300: 7.72e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-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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GenotypeQuality
all individuals: 362
bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.524008350730688e-5
allele num: 15328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59980
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.51e0

VQSLOD
type: SiteQuality
SIO_000300: -1.415e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.213832e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.817e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59756
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.220703125e-4
allele num: 8192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10640
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.031000000000001e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.791e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15014
num of homozygotes: 0

Other
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
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.416817576109612e-5
allele num: 58534
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.146321e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10492
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.656903208627346e-5
allele num: 15022
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.142739e6

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

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 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: 742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58276
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 14936
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -1.881e0

DP
type: SiteQuality
SIO_000300: 1.132964e6

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.471981112422748e-5
allele num: 57604
num of homozygotes: 0

African
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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: 14826
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4588
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
type: SiteQuality
SIO_000300: 1.131054e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.873e0

MQ
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SIO_000300: 5.884e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-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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variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.392e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 2.808575e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.359e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.284e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

QD
type: SiteQuality
SIO_000300: 1.298e1

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: 14

GenotypeQuality
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variant carriers: 0

African
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allele count: 14
allele frequency: 1.350569168435269e-3
allele num: 10366
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

FS
type: SiteQuality
SIO_000300: 6.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 2.808767e6

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.037e0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

DP
type: SiteQuality
SIO_000300: 2.808811e6

QD
type: SiteQuality
SIO_000300: 1.528e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.679e0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10374
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 5.003e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

VQSLOD
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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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501800720288115e-5
allele num: 66640
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

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

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

Other
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allele count: 0
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African
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allele count: 83
allele frequency: 7.99768741568703e-3
allele num: 10378
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East Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 8
allele frequency: 6.912044237083118e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

Other
type: Population
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South Asian
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allele num: 16512
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

VQSLOD
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QD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-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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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.501800720288115e-5
allele num: 66640
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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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
all individuals: 1
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 2210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35242
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6293
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.925669170036588e-4
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.414e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

FS
type: SiteQuality
SIO_000300: 3.457e0

DP
type: SiteQuality
SIO_000300: 2.813285e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 9.02e0

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

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2033
bin: 7.25e1
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GenotypeQuality
all individuals: 35263
bin: 9.75e1
variant carriers: 153

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: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6273
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 146
allele frequency: 1.405738494126709e-2
allele num: 10386
num of homozygotes: 3

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

Latino
type: Population
allele count: 7
allele frequency: 6.048038707447727e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.50112528132033e-5
allele num: 66650
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.681e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

FS
type: SiteQuality
SIO_000300: 5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.817165e6

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

QD
type: SiteQuality
SIO_000300: 1.258e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6272
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3944
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.735e-1

QD
type: SiteQuality
SIO_000300: 8.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.308e0

FS
type: SiteQuality
SIO_000300: 6.63e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.806757e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.493e0

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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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: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3533
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3779
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3343
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.001710324961742e-5
allele num: 66654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

DP
type: SiteQuality
SIO_000300: 2.807451e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.254e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1