19-11040268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040268
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040268
    reference: chr 19
allele count: 83
allele frequency: 7.119696683765376e-4
allele num: 116578
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.673G>A
  hgvsp: ENSP00000270502.5:p.Asp225Asn
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 41134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp225Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8538
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16450
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

19-11040269-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040269
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040269
    reference: chr 19
allele count: 4
allele frequency: 3.431002538941879e-5
allele num: 116584
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.674A>G
  hgvsp: ENSP00000270502.5:p.Asp225Gly
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3568
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp225Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16450
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9556
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-11040281-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040281
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040281
    reference: chr 19
allele count: 1
allele frequency: 8.595791500481364e-6
allele num: 116336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.686A>T
  hgvsp: ENSP00000270502.5:p.Gln229Leu
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln229Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 860
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8534
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-11040283-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040283
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040283
    reference: chr 19
allele count: 2
allele frequency: 1.719779180353243e-5
allele num: 116294
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.688G>A
  hgvsp: ENSP00000270502.5:p.Ala230Thr
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52483
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala230Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6592
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 860
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-11040283-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040283
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040282
    reference: chr 19
allele count: 8
allele frequency: 6.879116721412971e-5
allele num: 116294
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.689delC
  hgvsp: ENSP00000270502.5:p.Ala230GlyfsTer18
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala230GlyfsTer18
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8530
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 1
  allele frequency: 1.162790697674419e-3
  allele num: 860
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: GC
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

19-11040292-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040292
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040292
    reference: chr 19
allele count: 3
allele frequency: 2.584201912309415e-5
allele num: 116090
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.697G>A
  hgvsp: ENSP00000270502.5:p.Glu233Lys
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu233Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.739730816290858e-5
  allele num: 11442
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9434
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-11040295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040295
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040295
    reference: chr 19
allele count: 9
allele frequency: 7.758219402444701e-5
allele num: 116006
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.700G>A
  hgvsp: ENSP00000270502.5:p.Glu234Lys
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52274
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Glu234Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9426
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11440
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

19-11040298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040298
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040298
    reference: chr 19
allele count: 1
allele frequency: 8.637368711995577e-6
allele num: 115776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.2C>T
  hgvsp: ENSP00000466926.1:p.Gln2Ter
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.703C>T
  hgvsp: ENSP00000270502.5:p.Gln235Ter
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln235Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum

19-11040306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040306
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040306
    reference: chr 19
allele count: 1
allele frequency: 8.669718407546123e-6
allele num: 115344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.711G>A
  hgvsp: ENST00000270502.6:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.10G>A
  hgvsp: ENST00000588807.1:c.10G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 40326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu237Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

19-11040308-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040308
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040308
    reference: chr 19
allele count: 1
allele frequency: 8.736065974770241e-6
allele num: 114468
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.12A>G
  hgvsp: ENSP00000466926.1:p.Gln5Arg
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.713A>G
  hgvsp: ENSP00000270502.5:p.Gln238Arg
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln238Arg
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

19-11040309-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040309
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040309
    reference: chr 19
allele count: 4
allele frequency: 3.494609564746379e-5
allele num: 114462
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.714G>A
  hgvsp: ENST00000270502.6:c.714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.13G>A
  hgvsp: ENST00000588807.1:c.13G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln238Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

19-11040310-AAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040310
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040307
    reference: chr 19
allele count: 5
allele frequency: 4.367727733324016e-5
allele num: 114476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.17_19delGAG
  hgvsp: ENSP00000466926.1:p.Glu7del
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.718_720delGAG
  hgvsp: ENSP00000270502.5:p.Glu240del
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13730
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39453
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 50520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu240del
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: AAGG
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

19-11040312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040312
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040312
    reference: chr 19
allele count: 1
allele frequency: 8.737898011254413e-6
allele num: 114444
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.717G>A
  hgvsp: ENST00000270502.6:c.717G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.16G>A
  hgvsp: ENST00000588807.1:c.16G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys239Lys
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

19-11040313-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040313
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040313
    reference: chr 19
allele count: 1
allele frequency: 8.73576071004263e-6
allele num: 114472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.17G>A
  hgvsp: ENSP00000466926.1:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.718G>A
  hgvsp: ENSP00000270502.5:p.Glu240Lys
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu240Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

19-11040313-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040313
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040310
    reference: chr 19
allele count: 5
allele frequency: 4.367880355021316e-5
allele num: 114472
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.23_25delAAG
  hgvsp: ENSP00000466926.1:p.Lys9del
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.724_726delAAG
  hgvsp: ENSP00000270502.5:p.Lys242del
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys242del
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: GAGA
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

19-11040315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040315
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040315
    reference: chr 19
allele count: 1
allele frequency: 8.752735229759301e-6
allele num: 114250
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.720G>A
  hgvsp: ENST00000270502.6:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.19G>A
  hgvsp: ENST00000588807.1:c.19G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu240Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

19-11040318-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040318
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040318
    reference: chr 19
allele count: 19
allele frequency: 1.678089450999788e-4
allele num: 113224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.22G>A
  hgvsp: ENST00000588807.1:c.22G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.723G>A
  hgvsp: ENST00000270502.6:c.723G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13312
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys241Lys
num of homozygotes: 3
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS

19-11040319-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040319
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040319
    reference: chr 19
allele count: 2
allele frequency: 1.771290916820179e-5
allele num: 112912
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.724A>G
  hgvsp: ENSP00000270502.5:p.Lys242Glu
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.23A>G
  hgvsp: ENSP00000466926.1:p.Lys9Glu
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4443
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys242Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

19-11040323-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040323
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040323
    reference: chr 19
allele count: 1
allele frequency: 9.040446959697687e-6
allele num: 110614
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.728A>G
  hgvsp: ENSP00000270502.5:p.Asp243Gly
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.27A>G
  hgvsp: ENSP00000466926.1:p.Asp10Gly
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46028
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 296
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp243Gly
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: A
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

19-11040323-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040323
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040323
    reference: chr 19
allele count: 8
allele frequency: 7.23235756775815e-5
allele num: 110614
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.728A>T
  hgvsp: ENSP00000270502.5:p.Asp243Val
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.27A>T
  hgvsp: ENSP00000466926.1:p.Asp10Val
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 250
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genotype quality: GenotypeQuality
  all individuals: 46028
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 296
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp243Val
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

19-11040334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040334
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040334
    reference: chr 19
allele count: 1
allele frequency: 9.636882275846118e-6
allele num: 103768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.38C>T
  hgvsp: ENST00000588807.1:c.38C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.739C>T
  hgvsp: ENST00000270502.6:c.739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 37494
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 675
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genotype quality: GenotypeQuality
  all individuals: 191
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genotype quality: GenotypeQuality
  all individuals: 554
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 701
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 347
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genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu247Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff

19-11040345-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040345
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040345
    reference: chr 19
allele count: 1
allele frequency: 1.04753723994888e-5
allele num: 95462
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.750C>T
  hgvsp: ENST00000270502.6:c.750C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.49C>T
  hgvsp: ENST00000588807.1:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19595
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala250Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

19-11040356-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040356
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040356
    reference: chr 19
allele count: 6
allele frequency: 7.341425215348474e-5
allele num: 81728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.60T>A
  hgvsp: ENSP00000466926.1:p.Val21Glu
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.761T>A
  hgvsp: ENSP00000270502.5:p.Val254Glu
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13635
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17569
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29057
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val254Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

19-11040363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040363
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040363
    reference: chr 19
allele count: 1
allele frequency: 1.394077956839346e-5
allele num: 71732
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.768G>A
  hgvsp: ENST00000270502.6:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.67G>A
  hgvsp: ENST00000588807.1:c.67G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9641
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4849
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala256Ala
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

19-11040367-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040367
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040367
    reference: chr 19
allele count: 2
allele frequency: 3.007337904486948e-5
allele num: 66504
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.772G>T
  hgvsp: ENSP00000270502.5:p.Ala258Ser
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.71G>T
  hgvsp: ENSP00000466926.1:p.Ala25Ser
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19783
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7866
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33339
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5890
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala258Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

19-11040370-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040370
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040370
    reference: chr 19
allele count: 2
allele frequency: 3.108776074859328e-5
allele num: 64334
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.775C>G
  hgvsp: ENSP00000270502.5:p.Pro259Ala
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.74C>G
  hgvsp: ENSP00000466926.1:p.Pro26Ala
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34038
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8381
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro259Ala
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

19-11040371-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040371
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040371
    reference: chr 19
allele count: 2
allele frequency: 3.222583867745158e-5
allele num: 62062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.75C>G
  hgvsp: ENSP00000466926.1:p.Pro26Arg
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.776C>G
  hgvsp: ENSP00000270502.5:p.Pro259Arg
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19711
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6954
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro259Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

19-11040372-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040372
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040372
    reference: chr 19
allele count: 141
allele frequency: 2.291192720181995e-3
allele num: 61540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.76G>C
  hgvsp: ENST00000588807.1:c.76G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.777G>C
  hgvsp: ENST00000270502.6:c.777G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 1.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19628
  bin: 1.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21876
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.75e1
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 7646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7057
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro259Pro
num of homozygotes: 1
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-11040372-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040372
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040372
    reference: chr 19
allele count: 2
allele frequency: 3.249918752031199e-5
allele num: 61540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.76G>T
  hgvsp: ENST00000588807.1:c.76G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.777G>T
  hgvsp: ENST00000270502.6:c.777G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21876
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7057
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro259Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-11040383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040383
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040383
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 48564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.*5C>T
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23581
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2802
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

19-11040388-G-GCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040388
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040390
    reference: chr 19
allele count: 1
allele frequency: 2.284148012791229e-5
allele num: 43780
alternate allele: GCC
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.*14_*15dupCC
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.*14_*15dupCC
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16795
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13022
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 360
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-11040397-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040397
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040397
    reference: chr 19
allele count: 3
allele frequency: 8.355614973262032e-5
allele num: 35904
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.*19T>C
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.*19T>C
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16040
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24904
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28279
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 1.536570374923171e-4
  allele num: 19524
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

19-11040409-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040409
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040408
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 26770
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.*32delC
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.*32delC
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24507
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 20070
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1276
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: GC
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-11040415-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040415
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040415
    reference: chr 19
allele count: 1
allele frequency: 4.116242693669219e-5
allele num: 24294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.*37C>T
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.*37C>T
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20654
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5926
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1926
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genotype quality: GenotypeQuality
  all individuals: 710
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 79
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1252
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-11040418-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11040418
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11040418
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 22546
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000270502
  ensembl transcript: ENST00000270502
  gene symbol: C19orf52
  hgvsc: ENST00000270502.6:c.*40G>C
  variant of: http://identifiers.org/hgnc/25152
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142444
  ensembl protein: ENSP00000466926
  ensembl transcript: ENST00000588807
  gene symbol: C19orf52
  hgvsc: ENST00000588807.1:c.*40G>C
  variant of: http://identifiers.org/hgnc/25152
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20957
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16048
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6701
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20600
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1156
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-11094778-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094778
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094778
    reference: chr 19
allele count: 1
allele frequency: 8.498053945646446e-6
allele num: 117674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.-28-22G>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.-31-19G>C
  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.-31-19G>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.-28-22G>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.-28-22G>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.-31-19G>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.-28-22G>C
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

19-11094781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094781
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094781
    reference: chr 19
allele count: 1
allele frequency: 8.501377223110144e-6
allele num: 117628
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.-28-19C>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.-28-19C>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.-28-19C>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.-31-16C>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.-28-19C>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.-31-16C>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.-31-16C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16290
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-11094783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094783
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094783
    reference: chr 19
allele count: 1
allele frequency: 8.494588946840863e-6
allele num: 117722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.-28-17G>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.-31-14G>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.-28-17G>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.-28-17G>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.-31-14G>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.-31-14G>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.-28-17G>A
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

19-11094784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094784
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094784
    reference: chr 19
allele count: 1
allele frequency: 8.496754239880366e-6
allele num: 117692
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.-28-16G>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.-28-16G>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.-28-16G>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.-31-13G>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.-31-13G>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.-28-16G>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.-31-13G>A
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6862
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5392
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-11094789-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094789
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094789
    reference: chr 19
allele count: 1
allele frequency: 8.491126772522713e-6
allele num: 117770
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.-28-11T>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.-28-11T>A
  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.-31-8T>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.-28-11T>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.-28-11T>A
  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.-31-8T>A
  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.-31-8T>A
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5388
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: c.-31-8T>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-11094799-GGAGGCCACTGTCTGCAGCTCCCGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094799
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094775
    reference: chr 19
allele count: 1
allele frequency: 8.482771491101573e-6
allele num: 117886
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  variant of: http://identifiers.org/hgnc/11100
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38853
  bin: 6.25e1
  variant carriers: 0
hgvs: c.-26_-3delGGCCACTGTCTGCAGCTCCCGTGA
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: GGAGGCCACTGTCTGCAGCTCCCGT
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

19-11094807-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094807
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094807
    reference: chr 19
allele count: 1
allele frequency: 8.463817181548878e-6
allele num: 118150
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.-21C>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.-21C>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.-21C>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.-21C>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.-21C>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.-21C>G
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.-21C>G
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7147
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

19-11094817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094817
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094817
    reference: chr 19
allele count: 1
allele frequency: 8.443806467955754e-6
allele num: 118430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.-11C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.-11C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.-11C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.-11C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.-11C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

19-11094820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094820
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094820
    reference: chr 19
allele count: 1
allele frequency: 8.436113313874031e-6
allele num: 118538
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.-8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.-8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.-8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.-8C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.-8C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

19-11094821-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094821
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094821
    reference: chr 19
allele count: 6
allele frequency: 5.060899490536118e-5
allele num: 118556
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.-7C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.-7C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.-7C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.-7C>T
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.-7C>T
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

19-11094836-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094836
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094836
    reference: chr 19
allele count: 4
allele frequency: 3.367797123901256e-5
allele num: 118772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.9T>C
  hgvsp: ENST00000344626.4:c.9T>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.9T>C
  hgvsp: ENST00000413806.3:c.9T>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.9T>C
  hgvsp: ENST00000444061.3:c.9T>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.9T>C
  hgvsp: ENST00000429416.3:c.9T>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.9T>C
  hgvsp: ENST00000589677.1:c.9T>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.9T>C
  hgvsp: ENST00000590574.1:c.9T>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.9T>C
  hgvsp: ENST00000450717.3:c.9T>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.9T>C
  hgvsp: ENST00000358026.2:c.9T>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.9T>C
  hgvsp: ENST00000541122.2:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22676
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21556
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr3Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

19-11094844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094844
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094844
    reference: chr 19
allele count: 1
allele frequency: 8.428860418071477e-6
allele num: 118640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.17C>T
  hgvsp: ENSP00000343896.4:p.Pro6Leu
  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.17C>T
  hgvsp: ENSP00000414727.2:p.Pro6Leu
  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.17C>T
  hgvsp: ENSP00000350720.2:p.Pro6Leu
  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.17C>T
  hgvsp: ENSP00000445036.2:p.Pro6Leu
  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.17C>T
  hgvsp: ENSP00000395654.1:p.Pro6Leu
  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.17C>T
  hgvsp: ENSP00000464778.1:p.Pro6Leu
  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.17C>T
  hgvsp: ENSP00000466963.1:p.Pro6Leu
  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.17C>T
  hgvsp: ENSP00000392837.2:p.Pro6Leu
  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.17C>T
  hgvsp: ENSP00000397783.2:p.Pro6Leu
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro6Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-11094846-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094846
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094846
    reference: chr 19
allele count: 2
allele frequency: 1.685999460480173e-5
allele num: 118624
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.19C>A
  hgvsp: ENSP00000464778.1:p.Pro7Thr
  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.19C>A
  hgvsp: ENSP00000445036.2:p.Pro7Thr
  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.19C>A
  hgvsp: ENSP00000466963.1:p.Pro7Thr
  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.19C>A
  hgvsp: ENSP00000395654.1:p.Pro7Thr
  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.19C>A
  hgvsp: ENSP00000350720.2:p.Pro7Thr
  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.19C>A
  hgvsp: ENSP00000397783.2:p.Pro7Thr
  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.19C>A
  hgvsp: ENSP00000343896.4:p.Pro7Thr
  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.19C>A
  hgvsp: ENSP00000392837.2:p.Pro7Thr
  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.19C>A
  hgvsp: ENSP00000414727.2:p.Pro7Thr
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro7Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

19-11094854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094854
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094854
    reference: chr 19
allele count: 1
allele frequency: 8.453514125822104e-6
allele num: 118294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.27C>T
  hgvsp: ENST00000541122.2:c.27C>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.27C>T
  hgvsp: ENST00000450717.3:c.27C>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.27C>T
  hgvsp: ENST00000358026.2:c.27C>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.27C>T
  hgvsp: ENST00000344626.4:c.27C>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.27C>T
  hgvsp: ENST00000589677.1:c.27C>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.27C>T
  hgvsp: ENST00000413806.3:c.27C>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.27C>T
  hgvsp: ENST00000429416.3:c.27C>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.27C>T
  hgvsp: ENST00000444061.3:c.27C>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.27C>T
  hgvsp: ENST00000590574.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41674
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly9Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-11094855-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094855
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094855
    reference: chr 19
allele count: 1
allele frequency: 8.452799567216662e-6
allele num: 118304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.28G>A
  hgvsp: ENSP00000350720.2:p.Gly10Arg
  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.28G>A
  hgvsp: ENSP00000397783.2:p.Gly10Arg
  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.28G>A
  hgvsp: ENSP00000395654.1:p.Gly10Arg
  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.28G>A
  hgvsp: ENSP00000466963.1:p.Gly10Arg
  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.28G>A
  hgvsp: ENSP00000343896.4:p.Gly10Arg
  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.28G>A
  hgvsp: ENSP00000414727.2:p.Gly10Arg
  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.28G>A
  hgvsp: ENSP00000392837.2:p.Gly10Arg
  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.28G>A
  hgvsp: ENSP00000464778.1:p.Gly10Arg
  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.28G>A
  hgvsp: ENSP00000445036.2:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly10Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

19-11094865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094865
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094865
    reference: chr 19
allele count: 1
allele frequency: 8.473858147614609e-6
allele num: 118010
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.38G>A
  hgvsp: ENSP00000464778.1:p.Arg13Gln
  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.38G>A
  hgvsp: ENSP00000466963.1:p.Arg13Gln
  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.38G>A
  hgvsp: ENSP00000392837.2:p.Arg13Gln
  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.38G>A
  hgvsp: ENSP00000414727.2:p.Arg13Gln
  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.38G>A
  hgvsp: ENSP00000350720.2:p.Arg13Gln
  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.38G>A
  hgvsp: ENSP00000397783.2:p.Arg13Gln
  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.38G>A
  hgvsp: ENSP00000445036.2:p.Arg13Gln
  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.38G>A
  hgvsp: ENSP00000395654.1:p.Arg13Gln
  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.38G>A
  hgvsp: ENSP00000343896.4:p.Arg13Gln
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41596
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg13Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD

19-11094866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094866
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094866
    reference: chr 19
allele count: 1
allele frequency: 8.477593719798572e-6
allele num: 117958
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.39G>A
  hgvsp: ENST00000429416.3:c.39G>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.39G>A
  hgvsp: ENST00000589677.1:c.39G>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.39G>A
  hgvsp: ENST00000358026.2:c.39G>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.39G>A
  hgvsp: ENST00000450717.3:c.39G>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.39G>A
  hgvsp: ENST00000413806.3:c.39G>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.39G>A
  hgvsp: ENST00000444061.3:c.39G>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.39G>A
  hgvsp: ENST00000541122.2:c.39G>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.39G>A
  hgvsp: ENST00000344626.4:c.39G>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.39G>A
  hgvsp: ENST00000590574.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg13Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-11094867-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094867
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094867
    reference: chr 19
allele count: 1
allele frequency: 8.49285750683675e-6
allele num: 117746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.40C>A
  hgvsp: ENSP00000343896.4:p.Pro14Thr
  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.40C>A
  hgvsp: ENSP00000392837.2:p.Pro14Thr
  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.40C>A
  hgvsp: ENSP00000445036.2:p.Pro14Thr
  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.40C>A
  hgvsp: ENSP00000350720.2:p.Pro14Thr
  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.40C>A
  hgvsp: ENSP00000464778.1:p.Pro14Thr
  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.40C>A
  hgvsp: ENSP00000395654.1:p.Pro14Thr
  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.40C>A
  hgvsp: ENSP00000466963.1:p.Pro14Thr
  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.40C>A
  hgvsp: ENSP00000414727.2:p.Pro14Thr
  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.40C>A
  hgvsp: ENSP00000397783.2:p.Pro14Thr
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro14Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-11094881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094881
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094881
    reference: chr 19
allele count: 58
allele frequency: 4.967709885742673e-4
allele num: 116754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.54G>A
  hgvsp: ENST00000358026.2:c.54G>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.54G>A
  hgvsp: ENST00000590574.1:c.54G>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.54G>A
  hgvsp: ENST00000344626.4:c.54G>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.54G>A
  hgvsp: ENST00000450717.3:c.54G>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.54G>A
  hgvsp: ENST00000541122.2:c.54G>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.54G>A
  hgvsp: ENST00000589677.1:c.54G>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.54G>A
  hgvsp: ENST00000444061.3:c.54G>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.54G>A
  hgvsp: ENST00000429416.3:c.54G>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.54G>A
  hgvsp: ENST00000413806.3:c.54G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19873
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22299
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40384
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro18Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-11094884-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094884
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094884
    reference: chr 19
allele count: 1
allele frequency: 8.578242146619315e-6
allele num: 116574
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.57C>T
  hgvsp: ENST00000444061.3:c.57C>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.57C>T
  hgvsp: ENST00000358026.2:c.57C>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.57C>T
  hgvsp: ENST00000429416.3:c.57C>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.57C>T
  hgvsp: ENST00000344626.4:c.57C>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.57C>T
  hgvsp: ENST00000450717.3:c.57C>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.57C>T
  hgvsp: ENST00000413806.3:c.57C>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.57C>T
  hgvsp: ENST00000541122.2:c.57C>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.57C>T
  hgvsp: ENST00000590574.1:c.57C>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.57C>T
  hgvsp: ENST00000589677.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly19Gly
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: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-11094896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094896
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094896
    reference: chr 19
allele count: 3
allele frequency: 2.597672485453034e-5
allele num: 115488
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.69C>T
  hgvsp: ENST00000450717.3:c.69C>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.69C>T
  hgvsp: ENST00000429416.3:c.69C>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.69C>T
  hgvsp: ENST00000444061.3:c.69C>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.69C>T
  hgvsp: ENST00000413806.3:c.69C>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.69C>T
  hgvsp: ENST00000589677.1:c.69C>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.69C>T
  hgvsp: ENST00000344626.4:c.69C>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.69C>T
  hgvsp: ENST00000590574.1:c.69C>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.69C>T
  hgvsp: ENST00000541122.2:c.69C>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.69C>T
  hgvsp: ENST00000358026.2:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39012
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser23Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-11094898-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094898
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094898
    reference: chr 19
allele count: 1
allele frequency: 8.674832575731289e-6
allele num: 115276
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.71C>T
  hgvsp: ENSP00000397783.2:p.Pro24Leu
  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.71C>T
  hgvsp: ENSP00000466963.1:p.Pro24Leu
  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.71C>T
  hgvsp: ENSP00000392837.2:p.Pro24Leu
  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.71C>T
  hgvsp: ENSP00000464778.1:p.Pro24Leu
  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.71C>T
  hgvsp: ENSP00000350720.2:p.Pro24Leu
  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.71C>T
  hgvsp: ENSP00000414727.2:p.Pro24Leu
  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.71C>T
  hgvsp: ENSP00000395654.1:p.Pro24Leu
  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.71C>T
  hgvsp: ENSP00000445036.2:p.Pro24Leu
  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.71C>T
  hgvsp: ENSP00000343896.4:p.Pro24Leu
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro24Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-11094899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094899
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094899
    reference: chr 19
allele count: 1
allele frequency: 8.691419830343484e-6
allele num: 115056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.72T>C
  hgvsp: ENST00000589677.1:c.72T>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.72T>C
  hgvsp: ENST00000590574.1:c.72T>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.72T>C
  hgvsp: ENST00000444061.3:c.72T>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.72T>C
  hgvsp: ENST00000429416.3:c.72T>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.72T>C
  hgvsp: ENST00000358026.2:c.72T>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.72T>C
  hgvsp: ENST00000541122.2:c.72T>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.72T>C
  hgvsp: ENST00000344626.4:c.72T>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.72T>C
  hgvsp: ENST00000413806.3:c.72T>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.72T>C
  hgvsp: ENST00000450717.3:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro24Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-11094903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094903
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094903
    reference: chr 19
allele count: 34
allele frequency: 2.981985300566577e-4
allele num: 114018
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.76G>A
  hgvsp: ENSP00000466963.1:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.76G>A
  hgvsp: ENSP00000397783.2:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.76G>A
  hgvsp: ENSP00000350720.2:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.76G>A
  hgvsp: ENSP00000464778.1:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.76G>A
  hgvsp: ENSP00000414727.2:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.76G>A
  hgvsp: ENSP00000392837.2:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.76G>A
  hgvsp: ENSP00000343896.4:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.76G>A
  hgvsp: ENSP00000395654.1:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.76G>A
  hgvsp: ENSP00000445036.2:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21479
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala26Thr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

19-11094906-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094906
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094906
    reference: chr 19
allele count: 1
allele frequency: 8.769929665164086e-6
allele num: 114026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.79A>G
  hgvsp: ENSP00000466963.1:p.Met27Val
  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.79A>G
  hgvsp: ENSP00000445036.2:p.Met27Val
  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.79A>G
  hgvsp: ENSP00000464778.1:p.Met27Val
  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.79A>G
  hgvsp: ENSP00000397783.2:p.Met27Val
  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.79A>G
  hgvsp: ENSP00000414727.2:p.Met27Val
  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.79A>G
  hgvsp: ENSP00000392837.2:p.Met27Val
  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.79A>G
  hgvsp: ENSP00000350720.2:p.Met27Val
  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.79A>G
  hgvsp: ENSP00000343896.4:p.Met27Val
  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.79A>G
  hgvsp: ENSP00000395654.1:p.Met27Val
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met27Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-11094909-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094909
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094909
    reference: chr 19
allele count: 1
allele frequency: 8.852064301395086e-6
allele num: 112968
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.82C>A
  hgvsp: ENSP00000395654.1:p.Leu28Met
  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.82C>A
  hgvsp: ENSP00000466963.1:p.Leu28Met
  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.82C>A
  hgvsp: ENSP00000350720.2:p.Leu28Met
  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.82C>A
  hgvsp: ENSP00000392837.2:p.Leu28Met
  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.82C>A
  hgvsp: ENSP00000343896.4:p.Leu28Met
  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.82C>A
  hgvsp: ENSP00000464778.1:p.Leu28Met
  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.82C>A
  hgvsp: ENSP00000445036.2:p.Leu28Met
  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.82C>A
  hgvsp: ENSP00000414727.2:p.Leu28Met
  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.82C>A
  hgvsp: ENSP00000397783.2:p.Leu28Met
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5341
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu28Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

19-11094922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094922
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094922
    reference: chr 19
allele count: 4
allele frequency: 3.796723427681911e-5
allele num: 105354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.95C>T
  hgvsp: ENSP00000445036.2:p.Pro32Leu
  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.95C>T
  hgvsp: ENSP00000395654.1:p.Pro32Leu
  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.95C>T
  hgvsp: ENSP00000466963.1:p.Pro32Leu
  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.95C>T
  hgvsp: ENSP00000397783.2:p.Pro32Leu
  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.95C>T
  hgvsp: ENSP00000414727.2:p.Pro32Leu
  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.95C>T
  hgvsp: ENSP00000343896.4:p.Pro32Leu
  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.95C>T
  hgvsp: ENSP00000350720.2:p.Pro32Leu
  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.95C>T
  hgvsp: ENSP00000392837.2:p.Pro32Leu
  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.95C>T
  hgvsp: ENSP00000464778.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro32Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-11094922-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094922
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094921
    reference: chr 19
allele count: 1
allele frequency: 9.491808569204777e-6
allele num: 105354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000350720
  ensembl transcript: ENST00000358026
  gene symbol: SMARCA4
  hgvsc: ENST00000358026.2:c.98delG
  hgvsp: ENSP00000350720.2:p.Gly33ValfsTer10
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000395654
  ensembl transcript: ENST00000429416
  gene symbol: SMARCA4
  hgvsc: ENST00000429416.3:c.98delG
  hgvsp: ENSP00000395654.1:p.Gly33ValfsTer10
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000392837
  ensembl transcript: ENST00000444061
  gene symbol: SMARCA4
  hgvsc: ENST00000444061.3:c.98delG
  hgvsp: ENSP00000392837.2:p.Gly33ValfsTer10
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.98delG
  hgvsp: ENSP00000445036.2:p.Gly33ValfsTer10
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000343896
  ensembl transcript: ENST00000344626
  gene symbol: SMARCA4
  hgvsc: ENST00000344626.4:c.98delG
  hgvsp: ENSP00000343896.4:p.Gly33ValfsTer10
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.98delG
  hgvsp: ENSP00000397783.2:p.Gly33ValfsTer10
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.98delG
  hgvsp: ENSP00000414727.2:p.Gly33ValfsTer10
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.98delG
  hgvsp: ENSP00000466963.1:p.Gly33ValfsTer10
  variant of: http://identifiers.org/hgnc/11100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.98delG
  hgvsp: ENSP00000464778.1:p.Gly33ValfsTer10
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12686
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly33ValfsTer10
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: CG
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

19-11094923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094923
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094923
    reference: chr 19
allele count: 3
allele frequency: 2.84765068818225e-5
allele num: 105350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.96G>A
  hgvsp: ENST00000541122.2:c.96G>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.96G>A
  hgvsp: ENST00000589677.1:c.96G>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.96G>A
  hgvsp: ENST00000590574.1:c.96G>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.96G>A
  hgvsp: ENST00000413806.3:c.96G>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.96G>A
  hgvsp: ENST00000444061.3:c.96G>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.96G>A
  hgvsp: ENST00000344626.4:c.96G>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.96G>A
  hgvsp: ENST00000358026.2:c.96G>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.96G>A
  hgvsp: ENST00000450717.3:c.96G>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.96G>A
  hgvsp: ENST00000429416.3:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro32Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-11094929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094929
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094929
    reference: chr 19
allele count: 1
allele frequency: 1.004843344922527e-5
allele num: 99518
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.102C>T
  hgvsp: ENST00000450717.3:c.102C>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.102C>T
  hgvsp: ENST00000444061.3:c.102C>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.102C>T
  hgvsp: ENST00000413806.3:c.102C>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.102C>T
  hgvsp: ENST00000590574.1:c.102C>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.102C>T
  hgvsp: ENST00000589677.1:c.102C>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.102C>T
  hgvsp: ENST00000429416.3:c.102C>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.102C>T
  hgvsp: ENST00000358026.2:c.102C>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.102C>T
  hgvsp: ENST00000344626.4:c.102C>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.102C>T
  hgvsp: ENST00000541122.2:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro34Pro
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-11094931-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094931
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094931
    reference: chr 19
allele count: 8
allele frequency: 8.284660950250611e-5
allele num: 96564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000414727
  ensembl transcript: ENST00000413806
  gene symbol: SMARCA4
  hgvsc: ENST00000413806.3:c.104C>T
  hgvsp: ENSP00000414727.2:p.Ser35Leu
  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.104C>T
  hgvsp: ENSP00000343896.4:p.Ser35Leu
  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.104C>T
  hgvsp: ENSP00000466963.1:p.Ser35Leu
  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.104C>T
  hgvsp: ENSP00000350720.2:p.Ser35Leu
  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.104C>T
  hgvsp: ENSP00000395654.1:p.Ser35Leu
  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.104C>T
  hgvsp: ENSP00000445036.2:p.Ser35Leu
  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.104C>T
  hgvsp: ENSP00000464778.1:p.Ser35Leu
  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.104C>T
  hgvsp: ENSP00000397783.2:p.Ser35Leu
  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.104C>T
  hgvsp: ENSP00000392837.2:p.Ser35Leu
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13901
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10771
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15069
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser35Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-11094932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094932
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094932
    reference: chr 19
allele count: 1
allele frequency: 1.037408967363114e-5
allele num: 96394
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.105G>A
  hgvsp: ENST00000589677.1:c.105G>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.105G>A
  hgvsp: ENST00000358026.2:c.105G>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.105G>A
  hgvsp: ENST00000413806.3:c.105G>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.105G>A
  hgvsp: ENST00000429416.3:c.105G>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.105G>A
  hgvsp: ENST00000590574.1:c.105G>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.105G>A
  hgvsp: ENST00000444061.3:c.105G>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.105G>A
  hgvsp: ENST00000344626.4:c.105G>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.105G>A
  hgvsp: ENST00000450717.3:c.105G>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.105G>A
  hgvsp: ENST00000541122.2:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11148
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser35Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-11094934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094934
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094934
    reference: chr 19
allele count: 1
allele frequency: 1.035732780942517e-5
allele num: 96550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000445036
  ensembl transcript: ENST00000541122
  gene symbol: SMARCA4
  hgvsc: ENST00000541122.2:c.107C>T
  hgvsp: ENSP00000445036.2:p.Pro36Leu
  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.107C>T
  hgvsp: ENSP00000466963.1:p.Pro36Leu
  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.107C>T
  hgvsp: ENSP00000397783.2:p.Pro36Leu
  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.107C>T
  hgvsp: ENSP00000392837.2:p.Pro36Leu
  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.107C>T
  hgvsp: ENSP00000350720.2:p.Pro36Leu
  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.107C>T
  hgvsp: ENSP00000414727.2:p.Pro36Leu
  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.107C>T
  hgvsp: ENSP00000464778.1:p.Pro36Leu
  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.107C>T
  hgvsp: ENSP00000395654.1:p.Pro36Leu
  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.107C>T
  hgvsp: ENSP00000343896.4:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5325
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro36Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

19-11094935-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094935
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094935
    reference: chr 19
allele count: 2
allele frequency: 2.072023538187394e-5
allele num: 96524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000397783
  ensembl transcript: ENST00000450717
  gene symbol: SMARCA4
  hgvsc: ENST00000450717.3:c.108G>A
  hgvsp: ENST00000450717.3:c.108G>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.108G>A
  hgvsp: ENST00000590574.1:c.108G>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.108G>A
  hgvsp: ENST00000589677.1:c.108G>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.108G>A
  hgvsp: ENST00000429416.3:c.108G>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.108G>A
  hgvsp: ENST00000541122.2:c.108G>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.108G>A
  hgvsp: ENST00000358026.2:c.108G>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.108G>A
  hgvsp: ENST00000413806.3:c.108G>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.108G>A
  hgvsp: ENST00000444061.3:c.108G>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.108G>A
  hgvsp: ENST00000344626.4:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13664
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro36Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

19-11094941-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094941
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094941
    reference: chr 19
allele count: 2
allele frequency: 2.119676961231108e-5
allele num: 94354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.114C>T
  hgvsp: ENST00000590574.1:c.114C>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.114C>T
  hgvsp: ENST00000444061.3:c.114C>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.114C>T
  hgvsp: ENST00000589677.1:c.114C>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.114C>T
  hgvsp: ENST00000413806.3:c.114C>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.114C>T
  hgvsp: ENST00000429416.3:c.114C>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.114C>T
  hgvsp: ENST00000344626.4:c.114C>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.114C>T
  hgvsp: ENST00000358026.2:c.114C>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.114C>T
  hgvsp: ENST00000541122.2:c.114C>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.114C>T
  hgvsp: ENST00000450717.3:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13038
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser38Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-11094942-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094942
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094942
    reference: chr 19
allele count: 3
allele frequency: 3.203211753651661e-5
allele num: 93656
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.115G>A
  hgvsp: ENSP00000397783.2:p.Ala39Thr
  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.115G>A
  hgvsp: ENSP00000392837.2:p.Ala39Thr
  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.115G>A
  hgvsp: ENSP00000350720.2:p.Ala39Thr
  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.115G>A
  hgvsp: ENSP00000343896.4:p.Ala39Thr
  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.115G>A
  hgvsp: ENSP00000395654.1:p.Ala39Thr
  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.115G>A
  hgvsp: ENSP00000414727.2:p.Ala39Thr
  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.115G>A
  hgvsp: ENSP00000464778.1:p.Ala39Thr
  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.115G>A
  hgvsp: ENSP00000466963.1:p.Ala39Thr
  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.115G>A
  hgvsp: ENSP00000445036.2:p.Ala39Thr
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11585
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11667
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala39Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-11094942-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094942
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094942
    reference: chr 19
allele count: 2
allele frequency: 2.135474502434441e-5
allele num: 93656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000466963
  ensembl transcript: ENST00000590574
  gene symbol: SMARCA4
  hgvsc: ENST00000590574.1:c.115G>T
  hgvsp: ENSP00000466963.1:p.Ala39Ser
  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.115G>T
  hgvsp: ENSP00000464778.1:p.Ala39Ser
  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.115G>T
  hgvsp: ENSP00000350720.2:p.Ala39Ser
  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.115G>T
  hgvsp: ENSP00000392837.2:p.Ala39Ser
  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.115G>T
  hgvsp: ENSP00000343896.4:p.Ala39Ser
  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.115G>T
  hgvsp: ENSP00000397783.2:p.Ala39Ser
  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.115G>T
  hgvsp: ENSP00000414727.2:p.Ala39Ser
  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.115G>T
  hgvsp: ENSP00000445036.2:p.Ala39Ser
  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.115G>T
  hgvsp: ENSP00000395654.1:p.Ala39Ser
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11585
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5319
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala39Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

19-11094947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094947
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094947
    reference: chr 19
allele count: 173
allele frequency: 1.886175316179677e-3
allele num: 91720
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.120C>T
  hgvsp: ENST00000450717.3:c.120C>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.120C>T
  hgvsp: ENST00000589677.1:c.120C>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.120C>T
  hgvsp: ENST00000344626.4:c.120C>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.120C>T
  hgvsp: ENST00000429416.3:c.120C>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.120C>T
  hgvsp: ENST00000358026.2:c.120C>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.120C>T
  hgvsp: ENST00000590574.1:c.120C>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.120C>T
  hgvsp: ENST00000444061.3:c.120C>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.120C>T
  hgvsp: ENST00000413806.3:c.120C>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.120C>T
  hgvsp: ENST00000541122.2:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12866
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11365
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10688
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 12432
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5406
  bin: 9.75e1
  variant carriers: 168
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His40His
num of homozygotes: 3
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

19-11094953-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 11094953
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 11094953
    reference: chr 19
allele count: 1
allele frequency: 1.131861912846633e-5
allele num: 88350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127616
  ensembl protein: ENSP00000464778
  ensembl transcript: ENST00000589677
  gene symbol: SMARCA4
  hgvsc: ENST00000589677.1:c.126G>C
  hgvsp: ENSP00000464778.1:p.Met42Ile
  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.126G>C
  hgvsp: ENSP00000392837.2:p.Met42Ile
  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.126G>C
  hgvsp: ENSP00000350720.2:p.Met42Ile
  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.126G>C
  hgvsp: ENSP00000414727.2:p.Met42Ile
  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.126G>C
  hgvsp: ENSP00000343896.4:p.Met42Ile
  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.126G>C
  hgvsp: ENSP00000395654.1:p.Met42Ile
  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.126G>C
  hgvsp: ENSP00000466963.1:p.Met42Ile
  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.126G>C
  hgvsp: ENSP00000445036.2:p.Met42Ile
  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.126G>C
  hgvsp: ENSP00000397783.2:p.Met42Ile
  variant of: http://identifiers.org/hgnc/11100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met42Ile
num of homozygotes: 0
reference allele: G

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

Latino
type: Population
allele count: 6
allele frequency: 5.224660397074191e-4
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 72
allele frequency: 1.141190642236734e-3
allele num: 63092
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.186728072011723e-4
allele num: 9554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

DP
type: SiteQuality
SIO_000300: 1.377767e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.35e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.141e0

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.339747044092941e-5
allele num: 63094
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 860
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 2.072e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

DP
type: SiteQuality
SIO_000300: 1.373106e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9482
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.588360494297786e-5
allele num: 62958
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
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Latino
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allele num: 11464
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VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.09e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

FS
type: SiteQuality
SIO_000300: 1.738e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.370399e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.364e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62948
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Latino
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allele frequency: 0.0e0
allele num: 11460
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 1.216249087813184e-4
allele num: 16444
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FS
type: SiteQuality
SIO_000300: 3.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

DP
type: SiteQuality
SIO_000300: 1.370181e6

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

MQ
type: SiteQuality
SIO_000300: 6.006e1

QD
type: SiteQuality
SIO_000300: 1.306e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.943064116413547e-5
allele num: 62948
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.033980582524272e-4
allele num: 6592
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9460
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VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 3.4e0

QD
type: SiteQuality
SIO_000300: 1.306e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 6.006e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

DP
type: SiteQuality
SIO_000300: 1.370181e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

East Asian
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allele count: 2
allele frequency: 2.346316283435007e-4
allele num: 8524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62832
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
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QD
type: SiteQuality
SIO_000300: 1.226e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.367367e6

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

FS
type: SiteQuality
SIO_000300: 2.373e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.787e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.39e-1

East Asian
type: Population
allele count: 9
allele frequency: 1.056338028169014e-3
allele num: 8520
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62776
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
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MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.148e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.879e0

FS
type: SiteQuality
SIO_000300: 1.965e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.366116e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596067290196955e-5
allele num: 62654
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Other
type: Population
allele count: 0
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allele num: 860
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.859e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

QD
type: SiteQuality
SIO_000300: 1.19e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

FS
type: SiteQuality
SIO_000300: 3.891e0

DP
type: SiteQuality
SIO_000300: 1.362992e6

MQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.601588776065857e-5
allele num: 62438
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
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MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.977e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.873e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 2.269e0

DP
type: SiteQuality
SIO_000300: 1.356727e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.253e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16250
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.613788206435787e-5
allele num: 61966
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QD
type: SiteQuality
SIO_000300: 1.251e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.225e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 4.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 5.849e0

DP
type: SiteQuality
SIO_000300: 1.34491e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61962
num of homozygotes: 0

Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 16248
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.53045013239188e-4
allele num: 11330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.289e1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 8.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 1.344265e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.236e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 5.430060816681147e-4
allele num: 9208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.343426e6

FS
type: SiteQuality
SIO_000300: 4.833e0

MQ
type: SiteQuality
SIO_000300: 5.616e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.108e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.754e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.247e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.614205004035513e-5
allele num: 61950
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.218e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.343033e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.889e0

MQRankSum
type: SiteQuality
SIO_000300: -1.092e0

QD
type: SiteQuality
SIO_000300: 1.033e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 848
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African
type: Population
allele count: 0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11328
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.154603643525357e-5
allele num: 16248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61968
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQ
type: SiteQuality
SIO_000300: 5.819e1

MQRankSum
type: SiteQuality
SIO_000300: -1.206e0

FS
type: SiteQuality
SIO_000300: 7.83e-1

QD
type: SiteQuality
SIO_000300: 1.663e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

DP
type: SiteQuality
SIO_000300: 1.343196e6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.613736121869352e-5
allele num: 61968
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.187084520417854e-4
allele num: 8424
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.765536723163842e-4
allele num: 11328
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.085776330076004e-4
allele num: 9210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.206e0

DP
type: SiteQuality
SIO_000300: 1.343196e6

QD
type: SiteQuality
SIO_000300: 1.663e1

FS
type: SiteQuality
SIO_000300: 7.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

MQ
type: SiteQuality
SIO_000300: 5.819e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61844
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.841732979664014e-5
allele num: 11310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

QD
type: SiteQuality
SIO_000300: 1.427e1

DP
type: SiteQuality
SIO_000300: 1.339095e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

South Asian
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allele count: 19
allele frequency: 1.178367650707021e-3
allele num: 16124
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Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9074
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

East Asian
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allele count: 0
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Latino
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allele frequency: 0.0e0
allele num: 11214
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61302
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.322563e6

InbreedingCoeff
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.206e0

FS
type: SiteQuality
SIO_000300: 1.106e0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8298
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.27043202407038e-5
allele num: 61154
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Other
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South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
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FS
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DP
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QD
type: SiteQuality
SIO_000300: 1.588e1

African
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allele frequency: 0.0e0
allele num: 8816
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East Asian
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allele frequency: 0.0e0
allele num: 8066
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European (Non-Finnish)
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allele frequency: 1.667000066680003e-5
allele num: 59988
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6172
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Other
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

ClippingRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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DP
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 59988
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Other
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allele num: 822
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Latino
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African
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allele num: 8816
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South Asian
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allele frequency: 5.044136191677175e-4
allele num: 15860
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East Asian
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allele num: 8066
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6172
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DP
type: SiteQuality
SIO_000300: 1.278278e6

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 1.666e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

FS
type: SiteQuality
SIO_000300: 2.902e0

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

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8148
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European (Finnish)
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allele frequency: 0.0e0
allele num: 5770
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Latino
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Other
type: Population
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South Asian
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allele frequency: 6.551362683438155e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 56500
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East Asian
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MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.341e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

East Asian
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allele frequency: 0.0e0
allele num: 6568
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Latino
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allele frequency: 0.0e0
allele num: 8756
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European (Finnish)
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allele count: 0
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Other
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South Asian
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allele frequency: 6.858710562414266e-5
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African
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52178
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.867e0

DP
type: SiteQuality
SIO_000300: 1.054536e6

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.094091903719912e-3
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South Asian
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DP
type: SiteQuality
SIO_000300: 8.71076e5

MQRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
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FS
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

East Asian
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Other
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Latino
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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East Asian
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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allele count: 2
allele frequency: 5.554321261941791e-5
allele num: 36008
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FS
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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QD
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DP
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

African
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Other
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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East Asian
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QD
type: SiteQuality
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ReadPosRankSum
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FS
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MQ
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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VQSLOD
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ClippingRankSum
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SIO_000300: 1.03e0

European (Non-Finnish)
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Other
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South Asian
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African
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Latino
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East Asian
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European (Finnish)
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MQ
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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African
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South Asian
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allele frequency: 9.23217550274223e-3
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Latino
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European (Non-Finnish)
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allele count: 37
allele frequency: 1.1109776603411e-3
allele num: 33304
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Other
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East Asian
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European (Finnish)
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allele count: 0
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QD
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VQSLOD
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FS
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InbreedingCoeff
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SIO_000300: 1.62e-2

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
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East Asian
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allele frequency: 5.260389268805891e-4
allele num: 3802
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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European (Non-Finnish)
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allele num: 33304
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ReadPosRankSum
type: SiteQuality
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FS
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.62e-2

DP
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QD
type: SiteQuality
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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Latino
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allele num: 3404
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QD
type: SiteQuality
SIO_000300: 6.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.48e-2

BaseQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
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ClippingRankSum
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SIO_000300: 0.0e0

MQRankSum
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VQSLOD
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SIO_000300: -1.265e0

South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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East Asian
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Latino
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allele frequency: 3.50140056022409e-4
allele num: 2856
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European (Non-Finnish)
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allele count: 0
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allele num: 23850
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MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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ReadPosRankSum
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SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.107e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.79e-2

DP
type: SiteQuality
SIO_000300: 5.36507e5

QD
type: SiteQuality
SIO_000300: 1.421e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1936
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

DP
type: SiteQuality
SIO_000300: 4.83001e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.583e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.08e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.302e1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 4.21385e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 2.11e1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.944543828264759e-4
allele num: 1118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1160
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

DP
type: SiteQuality
SIO_000300: 4.04485e5

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.22e-2

QD
type: SiteQuality
SIO_000300: 1.32e1

MQRankSum
type: SiteQuality
SIO_000300: -1.266e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2024
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12142
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1052
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.94486e5

VQSLOD
type: SiteQuality
SIO_000300: -1.164e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

QD
type: SiteQuality
SIO_000300: 1.2e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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: 11370
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.027326895418122e-4
allele num: 9734
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64620
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 2.141e1

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.685462e6

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547748026621266e-5
allele num: 64610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 8.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.723e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 7.877e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

DP
type: SiteQuality
SIO_000300: 1.690022e6

GenotypeQuality
all individuals: 1092
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64670
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.0275380189067e-4
allele num: 9732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e0

VQSLOD
type: SiteQuality
SIO_000300: -1.442e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 5.67e0

DP
type: SiteQuality
SIO_000300: 1.693713e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
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bin: 7.25e1
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
all individuals: 371
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546886118243975e-5
allele num: 64646
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.172e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.695634e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

QD
type: SiteQuality
SIO_000300: 1.514e1

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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bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64678
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.107243190423842e-5
allele num: 16374
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.706431e6

FS
type: SiteQuality
SIO_000300: 1.724e0

VQSLOD
type: SiteQuality
SIO_000300: -9.837e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: -1.469e0

QD
type: SiteQuality
SIO_000300: 1.307e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.12e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

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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variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544592382070372e-5
allele num: 64742
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 1.73103e6

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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Other
type: Population
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.541069502234551e-5
allele num: 64890
num of homozygotes: 0

Latino
type: Population
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6250
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African
type: Population
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allele num: 9742
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.52e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 194
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GenotypeQuality
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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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.53803562090498e-5
allele num: 65018
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 frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 874
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

InbreedingCoeff
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DP
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MQ
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

MQRankSum
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FS
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QD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.537137235612395e-5
allele num: 65056
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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DP
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SIO_000300: 1.761634e6

BaseQRankSum
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SIO_000300: 3.7e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.974e1

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 4
allele frequency: 2.435460301997078e-4
allele num: 16424
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.073801985676083e-5
allele num: 65066
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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VQSLOD
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MQRankSum
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

DP
type: SiteQuality
SIO_000300: 1.76305e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.97e-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
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
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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
allele num: 8574
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9814
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65148
num of homozygotes: 0

South Asian
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allele frequency: 2.431315341599805e-4
allele num: 16452
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.44e-1

DP
type: SiteQuality
SIO_000300: 1.767757e6

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
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variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.536334306345061e-5
allele num: 65090
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.811e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.222e0

VQSLOD
type: SiteQuality
SIO_000300: -2.026e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
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SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 7.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-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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variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

Other
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East Asian
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allele num: 8570
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.585e0

QD
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

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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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.540737088623197e-5
allele num: 64904
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Latino
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African
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South Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.217e0

ReadPosRankSum
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BaseQRankSum
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QD
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SIO_000300: 8.6e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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African
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South Asian
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Other
type: Population
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Latino
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East Asian
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QD
type: SiteQuality
SIO_000300: 1.887e1

DP
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
type: SiteQuality
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ClippingRankSum
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SIO_000300: 3.54e-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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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544640098856966e-5
allele num: 64740
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

Other
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DP
type: SiteQuality
SIO_000300: 1.7581e6

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -5.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.364e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 5.48e0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.170411985018727e-4
allele num: 8544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64706
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 6.909999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.757065e6

QD
type: SiteQuality
SIO_000300: 1.047e1

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 6.75e1
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
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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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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41244
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548754801139884e-5
allele num: 64568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.818e0

QD
type: SiteQuality
SIO_000300: 1.282e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.75409e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.135999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.287e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 58

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: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 58
allele frequency: 3.530557584611639e-3
allele num: 16428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63970
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.740579e6

QD
type: SiteQuality
SIO_000300: 1.344e1

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 392
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variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565337173627199e-5
allele num: 63884
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.937e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-1

FS
type: SiteQuality
SIO_000300: 1.035e0

QD
type: SiteQuality
SIO_000300: 1.002e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.79e-1

DP
type: SiteQuality
SIO_000300: 1.734927e6

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.266e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.07e-1

GenotypeQuality
all individuals: 139
bin: 8.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 112
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GenotypeQuality
all individuals: 6840
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.0991426687184e-4
allele num: 9098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.158659464923087e-5
allele num: 63318
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.712e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.348e0

FS
type: SiteQuality
SIO_000300: 9.009e0

QD
type: SiteQuality
SIO_000300: 8.76e0

DP
type: SiteQuality
SIO_000300: 1.718408e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.44e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 147
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GenotypeQuality
all individuals: 207
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.155361319709468e-5
allele num: 16246
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.407e0

VQSLOD
type: SiteQuality
SIO_000300: 4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.714788e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.305e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.161429451632779e-5
allele num: 16230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9034
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

DP
type: SiteQuality
SIO_000300: 1.712385e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.298e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.015e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5378
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variant carriers: 34

GenotypeQuality
all individuals: 303
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16124
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.189060642092747e-4
allele num: 8410
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.580379520229145e-4
allele num: 11172
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 3.255500673551863e-3
allele num: 8908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6002
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62562
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.323e0

QD
type: SiteQuality
SIO_000300: 1.343e1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

DP
type: SiteQuality
SIO_000300: 1.696272e6

GenotypeQuality
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bin: 4.75e1
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
all individuals: 999
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GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16122
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.121830827911151e-4
allele num: 8914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5992
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.494e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.503e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.207e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

DP
type: SiteQuality
SIO_000300: 1.694977e6

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.135847342117219e-4
allele num: 8804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.976e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

DP
type: SiteQuality
SIO_000300: 1.679162e6

MQRankSum
type: SiteQuality
SIO_000300: -1.129e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 3.078e0

VQSLOD
type: SiteQuality
SIO_000300: -1.178e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
all individuals: 457
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 130
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.727593117269021e-5
allele num: 57884
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.957713390759593e-4
allele num: 10216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5342
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.545359340227778e-5
allele num: 15278
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.539e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.557555e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 5.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
all individuals: 1070
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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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15278
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5342
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.24470998257406e-4
allele num: 8034
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.539e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 1.557555e6

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

FS
type: SiteQuality
SIO_000300: 5.148e0

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: 461
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.182421227197347e-5
allele num: 57888
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.556649e6

FS
type: SiteQuality
SIO_000300: 2.457e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.668e0

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

QD
type: SiteQuality
SIO_000300: 1.496e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 189
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7356
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.831434745980001e-5
allele num: 54602
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

DP
type: SiteQuality
SIO_000300: 1.453301e6

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.226e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.515e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.784260515603799e-4
allele num: 7370
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.087429317094389e-4
allele num: 9196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.781290176208122e-5
allele num: 52892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4690
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.409724e6

FS
type: SiteQuality
SIO_000300: 8.279e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7374
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.886103842445945e-5
allele num: 14522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.434e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.404049e6

QD
type: SiteQuality
SIO_000300: 1.408e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

GenotypeQuality
all individuals: 1999
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 52876
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 7416
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East Asian
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allele frequency: 1.395868230039084e-4
allele num: 7164
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14532
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.73e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-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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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7154
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9176
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.345532831001076e-4
allele num: 7432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.891718058340585e-5
allele num: 52862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.161e0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.39583e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-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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variant carriers: 2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7316
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.875217981011432e-5
allele num: 51610
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 6978
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14342
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4492
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8914
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Other
type: Population
allele count: 0
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

DP
type: SiteQuality
SIO_000300: 1.357849e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 8.73e-1

QD
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FS
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-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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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.951981260979895e-5
allele num: 51230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7274
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14236
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Latino
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allele count: 2
allele frequency: 2.26295541977823e-4
allele num: 8838
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.350354e6

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.428e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
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African
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East Asian
type: Population
allele count: 2
allele frequency: 2.884338044418806e-4
allele num: 6934
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51230
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -1.428e0

FS
type: SiteQuality
SIO_000300: 2.432e0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.350354e6

VQSLOD
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SIO_000300: 7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 696
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South Asian
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allele count: 170
allele frequency: 1.207214884249396e-2
allele num: 14082
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East Asian
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allele frequency: 0.0e0
allele num: 6766
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European (Finnish)
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African
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allele count: 2
allele frequency: 2.763194252555955e-4
allele num: 7238
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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DP
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