14-69356908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69356908
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69356908
    reference: chr 14
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1182C>T
  hgvsp: ENST00000438964.2:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1182C>T
  hgvsp: ENST00000193403.6:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1182C>T
  hgvsp: ENST00000394419.4:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1182C>T
  hgvsp: ENST00000538545.2:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.987C>T
  hgvsp: ENST00000376839.3:c.987C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His394His
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

14-69356918-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69356918
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69356918
    reference: chr 14
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.977G>A
  hgvsp: ENSP00000366035.3:p.Arg326Gln
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1172G>A
  hgvsp: ENSP00000439828.2:p.Arg391Gln
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1172G>A
  hgvsp: ENSP00000377941.4:p.Arg391Gln
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1172G>A
  hgvsp: ENSP00000193403.6:p.Arg391Gln
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1172G>A
  hgvsp: ENSP00000414272.2:p.Arg391Gln
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 7641
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg391Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

14-69356932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69356932
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69356932
    reference: chr 14
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1158C>T
  hgvsp: ENST00000193403.6:c.1158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1158C>T
  hgvsp: ENST00000538545.2:c.1158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1158C>T
  hgvsp: ENST00000394419.4:c.1158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.963C>T
  hgvsp: ENST00000376839.3:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1158C>T
  hgvsp: ENST00000438964.2:c.1158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7410
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 593
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genotype quality: GenotypeQuality
  all individuals: 42075
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile386Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum

14-69356932-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69356932
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69356932
    reference: chr 14
allele count: 2376
allele frequency: 1.960428389907424e-2
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1158C>A
  hgvsp: ENST00000538545.2:c.1158C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1158C>A
  hgvsp: ENST00000394419.4:c.1158C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1158C>A
  hgvsp: ENST00000438964.2:c.1158C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1158C>A
  hgvsp: ENST00000193403.6:c.1158C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.963C>A
  hgvsp: ENST00000376839.3:c.963C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 36683
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 479
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 13914
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 198
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 186
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 9.75e1
  variant carriers: 2321
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile386Ile
num of homozygotes: 53
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

14-69356950-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69356950
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69356950
    reference: chr 14
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1140G>C
  hgvsp: ENSP00000193403.6:p.Glu380Asp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1140G>C
  hgvsp: ENSP00000377941.4:p.Glu380Asp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1140G>C
  hgvsp: ENSP00000439828.2:p.Glu380Asp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.945G>C
  hgvsp: ENSP00000366035.3:p.Glu315Asp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1140G>C
  hgvsp: ENSP00000414272.2:p.Glu380Asp
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu380Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

14-69356951-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69356951
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69356951
    reference: chr 14
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1139A>T
  hgvsp: ENSP00000193403.6:p.Glu380Val
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1139A>T
  hgvsp: ENSP00000414272.2:p.Glu380Val
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1139A>T
  hgvsp: ENSP00000377941.4:p.Glu380Val
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1139A>T
  hgvsp: ENSP00000439828.2:p.Glu380Val
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.944A>T
  hgvsp: ENSP00000366035.3:p.Glu315Val
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu380Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-69356957-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69356957
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69356957
    reference: chr 14
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1133A>G
  hgvsp: ENSP00000439828.2:p.Tyr378Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1133A>G
  hgvsp: ENSP00000377941.4:p.Tyr378Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1133A>G
  hgvsp: ENSP00000414272.2:p.Tyr378Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1133A>G
  hgvsp: ENSP00000193403.6:p.Tyr378Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.938A>G
  hgvsp: ENSP00000366035.3:p.Tyr313Cys
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42747
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr378Cys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

14-69356962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69356962
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69356962
    reference: chr 14
allele count: 41
allele frequency: 3.380160928637383e-4
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1128G>A
  hgvsp: ENST00000394419.4:c.1128G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1128G>A
  hgvsp: ENST00000538545.2:c.1128G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1128G>A
  hgvsp: ENST00000193403.6:c.1128G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1128G>A
  hgvsp: ENST00000438964.2:c.1128G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.933G>A
  hgvsp: ENST00000376839.3:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 9.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys376Lys
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

14-69356969-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69356969
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69356969
    reference: chr 14
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1121T>C
  hgvsp: ENSP00000414272.2:p.Val374Ala
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1121T>C
  hgvsp: ENSP00000439828.2:p.Val374Ala
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1121T>C
  hgvsp: ENSP00000377941.4:p.Val374Ala
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.926T>C
  hgvsp: ENSP00000366035.3:p.Val309Ala
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1121T>C
  hgvsp: ENSP00000193403.6:p.Val374Ala
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val374Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

14-69356974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69356974
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69356974
    reference: chr 14
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1116G>A
  hgvsp: ENST00000193403.6:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1116G>A
  hgvsp: ENST00000394419.4:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1116G>A
  hgvsp: ENST00000538545.2:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.921G>A
  hgvsp: ENST00000376839.3:c.921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1116G>A
  hgvsp: ENST00000438964.2:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7690
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu372Glu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

14-69356983-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69356983
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69356983
    reference: chr 14
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1107C>A
  hgvsp: ENST00000538545.2:c.1107C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1107C>A
  hgvsp: ENST00000193403.6:c.1107C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1107C>A
  hgvsp: ENST00000438964.2:c.1107C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.912C>A
  hgvsp: ENST00000376839.3:c.912C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1107C>A
  hgvsp: ENST00000394419.4:c.1107C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly369Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-69356985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69356985
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69356985
    reference: chr 14
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1105G>A
  hgvsp: ENSP00000377941.4:p.Gly369Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1105G>A
  hgvsp: ENSP00000414272.2:p.Gly369Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.910G>A
  hgvsp: ENSP00000366035.3:p.Gly304Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1105G>A
  hgvsp: ENSP00000439828.2:p.Gly369Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1105G>A
  hgvsp: ENSP00000193403.6:p.Gly369Ser
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42733
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly369Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

14-69356996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69356996
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69356996
    reference: chr 14
allele count: 2
allele frequency: 1.649892756970797e-5
allele num: 121220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1094A>G
  hgvsp: ENSP00000439828.2:p.Asn365Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1094A>G
  hgvsp: ENSP00000377941.4:p.Asn365Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.899A>G
  hgvsp: ENSP00000366035.3:p.Asn300Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1094A>G
  hgvsp: ENSP00000414272.2:p.Asn365Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1094A>G
  hgvsp: ENSP00000193403.6:p.Asn365Ser
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn365Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

14-69357002-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69357002
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69357002
    reference: chr 14
allele count: 2
allele frequency: 1.650573574317075e-5
allele num: 121170
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1088A>G
  hgvsp: ENSP00000377941.4:p.Asp363Gly
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1088A>G
  hgvsp: ENSP00000193403.6:p.Asp363Gly
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1088A>G
  hgvsp: ENSP00000439828.2:p.Asp363Gly
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1088A>G
  hgvsp: ENSP00000414272.2:p.Asp363Gly
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.893A>G
  hgvsp: ENSP00000366035.3:p.Asp298Gly
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp363Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

14-69357016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69357016
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69357016
    reference: chr 14
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1087-13C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1087-13C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1087-13C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.892-13C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1087-13C>T
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

14-69357018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69357018
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69357018
    reference: chr 14
allele count: 2
allele frequency: 1.65264671371201e-5
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1087-15C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.892-15C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1087-15C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1087-15C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1087-15C>T
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7454
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-69357042-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69357042
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69357042
    reference: chr 14
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1087-39C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1087-39C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1087-39C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1087-39C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.892-39C>T
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

14-69357043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69357043
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69357043
    reference: chr 14
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.892-40C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1087-40C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1087-40C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1087-40C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1087-40C>T
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  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: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-69357045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69357045
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69357045
    reference: chr 14
allele count: 15
allele frequency: 1.244028662420382e-4
allele num: 120576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1087-42G>A
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1087-42G>A
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1087-42G>A
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1087-42G>A
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.892-42G>A
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11680
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

14-69357050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69357050
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69357050
    reference: chr 14
allele count: 4
allele frequency: 3.325794864972728e-5
allele num: 120272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.892-47G>A
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1087-47G>A
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1087-47G>A
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1087-47G>A
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1087-47G>A
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

14-69358733-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358733
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358733
    reference: chr 14
allele count: 1
allele frequency: 8.445517963616709e-6
allele num: 118406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.891+37A>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1086+37A>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1086+37A>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1086+37A>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1086+37A>T
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

14-69358737-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358737
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358737
    reference: chr 14
allele count: 2
allele frequency: 1.687991627561527e-5
allele num: 118484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.891+33C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1086+33C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1086+33C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1086+33C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1086+33C>T
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20271
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

14-69358741-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358741
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358741
    reference: chr 14
allele count: 1
allele frequency: 8.43355204344966e-6
allele num: 118574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1086+29C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1086+29C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1086+29C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1086+29C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.891+29C>T
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

14-69358744-G-GGCCCAGGCTCAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358744
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358756
    reference: chr 14
allele count: 1
allele frequency: 8.416658250008417e-6
allele num: 118812
alternate allele: GGCCCAGGCTCAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 21341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9434
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

14-69358745-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358745
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358745
    reference: chr 14
allele count: 1
allele frequency: 8.418217021634817e-6
allele num: 118790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1086+25C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.891+25C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1086+25C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1086+25C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1086+25C>T
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4004
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8483
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

14-69358762-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358762
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358762
    reference: chr 14
allele count: 1
allele frequency: 8.3301401129567e-6
allele num: 120046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1086+8C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1086+8C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.891+8C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1086+8C>T
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1086+8C>T
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18356
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1086+8C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

14-69358770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358770
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358770
    reference: chr 14
allele count: 1
allele frequency: 8.301786544464368e-6
allele num: 120456
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1086G>A
  hgvsp: ENST00000394419.4:c.1086G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1086G>A
  hgvsp: ENST00000438964.2:c.1086G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1086G>A
  hgvsp: ENST00000538545.2:c.1086G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1086G>A
  hgvsp: ENST00000193403.6:c.1086G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.891G>A
  hgvsp: ENST00000376839.3:c.891G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1086G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-69358771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358771
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358771
    reference: chr 14
allele count: 4
allele frequency: 3.317905074735812e-5
allele num: 120558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1085C>T
  hgvsp: ENSP00000414272.2:p.Ser362Leu
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1085C>T
  hgvsp: ENSP00000439828.2:p.Ser362Leu
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.890C>T
  hgvsp: ENSP00000366035.3:p.Ser297Leu
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1085C>T
  hgvsp: ENSP00000377941.4:p.Ser362Leu
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1085C>T
  hgvsp: ENSP00000193403.6:p.Ser362Leu
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22827
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser362Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

14-69358774-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358774
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358774
    reference: chr 14
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.887T>C
  hgvsp: ENSP00000366035.3:p.Val296Ala
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1082T>C
  hgvsp: ENSP00000439828.2:p.Val361Ala
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1082T>C
  hgvsp: ENSP00000193403.6:p.Val361Ala
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1082T>C
  hgvsp: ENSP00000377941.4:p.Val361Ala
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1082T>C
  hgvsp: ENSP00000414272.2:p.Val361Ala
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val361Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-69358779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358779
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358779
    reference: chr 14
allele count: 2
allele frequency: 1.654752449033625e-5
allele num: 120864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1077G>A
  hgvsp: ENST00000538545.2:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1077G>A
  hgvsp: ENST00000438964.2:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.882G>A
  hgvsp: ENST00000376839.3:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1077G>A
  hgvsp: ENST00000394419.4:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1077G>A
  hgvsp: ENST00000193403.6:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg359Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

14-69358780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358780
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358780
    reference: chr 14
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1076G>A
  hgvsp: ENSP00000193403.6:p.Arg359Lys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.881G>A
  hgvsp: ENSP00000366035.3:p.Arg294Lys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1076G>A
  hgvsp: ENSP00000439828.2:p.Arg359Lys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1076G>A
  hgvsp: ENSP00000414272.2:p.Arg359Lys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1076G>A
  hgvsp: ENSP00000377941.4:p.Arg359Lys
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31318
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg359Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

14-69358781-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358781
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358781
    reference: chr 14
allele count: 2
allele frequency: 1.654259718775848e-5
allele num: 120900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.880A>G
  hgvsp: ENSP00000366035.3:p.Arg294Gly
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1075A>G
  hgvsp: ENSP00000414272.2:p.Arg359Gly
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1075A>G
  hgvsp: ENSP00000193403.6:p.Arg359Gly
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1075A>G
  hgvsp: ENSP00000377941.4:p.Arg359Gly
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1075A>G
  hgvsp: ENSP00000439828.2:p.Arg359Gly
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4042
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg359Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

14-69358787-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358787
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358787
    reference: chr 14
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.874G>C
  hgvsp: ENSP00000366035.3:p.Glu292Gln
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1069G>C
  hgvsp: ENSP00000193403.6:p.Glu357Gln
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1069G>C
  hgvsp: ENSP00000414272.2:p.Glu357Gln
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1069G>C
  hgvsp: ENSP00000377941.4:p.Glu357Gln
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1069G>C
  hgvsp: ENSP00000439828.2:p.Glu357Gln
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu357Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

14-69358790-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358790
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358790
    reference: chr 14
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1066T>C
  hgvsp: ENSP00000377941.4:p.Ser356Pro
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.871T>C
  hgvsp: ENSP00000366035.3:p.Ser291Pro
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1066T>C
  hgvsp: ENSP00000193403.6:p.Ser356Pro
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1066T>C
  hgvsp: ENSP00000439828.2:p.Ser356Pro
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1066T>C
  hgvsp: ENSP00000414272.2:p.Ser356Pro
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4702
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser356Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

14-69358800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358800
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358800
    reference: chr 14
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1056C>T
  hgvsp: ENST00000394419.4:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1056C>T
  hgvsp: ENST00000538545.2:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1056C>T
  hgvsp: ENST00000193403.6:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.861C>T
  hgvsp: ENST00000376839.3:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1056C>T
  hgvsp: ENST00000438964.2:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31685
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala352Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

14-69358803-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358803
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358803
    reference: chr 14
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.858T>A
  hgvsp: ENST00000376839.3:c.858T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1053T>A
  hgvsp: ENST00000538545.2:c.1053T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1053T>A
  hgvsp: ENST00000394419.4:c.1053T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1053T>A
  hgvsp: ENST00000193403.6:c.1053T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1053T>A
  hgvsp: ENST00000438964.2:c.1053T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro351Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-69358808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358808
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358808
    reference: chr 14
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1048C>T
  hgvsp: ENSP00000414272.2:p.Arg350Trp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1048C>T
  hgvsp: ENSP00000439828.2:p.Arg350Trp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1048C>T
  hgvsp: ENSP00000377941.4:p.Arg350Trp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1048C>T
  hgvsp: ENSP00000193403.6:p.Arg350Trp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.853C>T
  hgvsp: ENSP00000366035.3:p.Arg285Trp
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9438
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg350Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-69358836-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358836
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358836
    reference: chr 14
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1020G>T
  hgvsp: ENST00000438964.2:c.1020G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1020G>T
  hgvsp: ENST00000394419.4:c.1020G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1020G>T
  hgvsp: ENST00000538545.2:c.1020G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.825G>T
  hgvsp: ENST00000376839.3:c.825G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1020G>T
  hgvsp: ENST00000193403.6:c.1020G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr340Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

14-69358836-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358836
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358836
    reference: chr 14
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1020G>C
  hgvsp: ENST00000394419.4:c.1020G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1020G>C
  hgvsp: ENST00000538545.2:c.1020G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1020G>C
  hgvsp: ENST00000193403.6:c.1020G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.825G>C
  hgvsp: ENST00000376839.3:c.825G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1020G>C
  hgvsp: ENST00000438964.2:c.1020G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr340Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

14-69358836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358836
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358836
    reference: chr 14
allele count: 3
allele frequency: 2.472024918011174e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1020G>A
  hgvsp: ENST00000394419.4:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1020G>A
  hgvsp: ENST00000193403.6:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1020G>A
  hgvsp: ENST00000438964.2:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1020G>A
  hgvsp: ENST00000538545.2:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.825G>A
  hgvsp: ENST00000376839.3:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr340Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

14-69358851-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358851
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358851
    reference: chr 14
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1005G>C
  hgvsp: ENSP00000414272.2:p.Glu335Asp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1005G>C
  hgvsp: ENSP00000377941.4:p.Glu335Asp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1005G>C
  hgvsp: ENSP00000193403.6:p.Glu335Asp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.810G>C
  hgvsp: ENSP00000366035.3:p.Glu270Asp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1005G>C
  hgvsp: ENSP00000439828.2:p.Glu335Asp
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu335Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

14-69358856-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358856
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358856
    reference: chr 14
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.1000C>A
  hgvsp: ENSP00000193403.6:p.Leu334Met
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.805C>A
  hgvsp: ENSP00000366035.3:p.Leu269Met
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.1000C>A
  hgvsp: ENSP00000439828.2:p.Leu334Met
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.1000C>A
  hgvsp: ENSP00000377941.4:p.Leu334Met
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.1000C>A
  hgvsp: ENSP00000414272.2:p.Leu334Met
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4711
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4050
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu334Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

14-69358863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358863
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358863
    reference: chr 14
allele count: 459
allele frequency: 3.781824174013348e-3
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.993G>A
  hgvsp: ENST00000394419.4:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.993G>A
  hgvsp: ENST00000538545.2:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.798G>A
  hgvsp: ENST00000376839.3:c.798G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.993G>A
  hgvsp: ENST00000438964.2:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.993G>A
  hgvsp: ENST00000193403.6:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 19714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4666
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 9.75e1
  variant carriers: 452
hgvs: p.Lys331Lys
num of homozygotes: 7
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

14-69358872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358872
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358872
    reference: chr 14
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.984G>A
  hgvsp: ENST00000193403.6:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.984G>A
  hgvsp: ENST00000438964.2:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.984G>A
  hgvsp: ENST00000538545.2:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.984G>A
  hgvsp: ENST00000394419.4:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.789G>A
  hgvsp: ENST00000376839.3:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val328Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

14-69358875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358875
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358875
    reference: chr 14
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.981G>A
  hgvsp: ENST00000193403.6:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.981G>A
  hgvsp: ENST00000394419.4:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.786G>A
  hgvsp: ENST00000376839.3:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.981G>A
  hgvsp: ENST00000538545.2:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.981G>A
  hgvsp: ENST00000438964.2:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys327Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

14-69358876-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358876
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358876
    reference: chr 14
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.980A>G
  hgvsp: ENSP00000193403.6:p.Lys327Arg
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.980A>G
  hgvsp: ENSP00000439828.2:p.Lys327Arg
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.980A>G
  hgvsp: ENSP00000414272.2:p.Lys327Arg
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.980A>G
  hgvsp: ENSP00000377941.4:p.Lys327Arg
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.785A>G
  hgvsp: ENSP00000366035.3:p.Lys262Arg
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9485
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys327Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

14-69358880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358880
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358880
    reference: chr 14
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.976C>T
  hgvsp: ENSP00000439828.2:p.Pro326Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.976C>T
  hgvsp: ENSP00000377941.4:p.Pro326Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.976C>T
  hgvsp: ENSP00000193403.6:p.Pro326Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.976C>T
  hgvsp: ENSP00000414272.2:p.Pro326Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.781C>T
  hgvsp: ENSP00000366035.3:p.Pro261Ser
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro326Ser
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

14-69358881-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358881
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358881
    reference: chr 14
allele count: 7
allele frequency: 5.76710771309463e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.975G>A
  hgvsp: ENST00000394419.4:c.975G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.975G>A
  hgvsp: ENST00000438964.2:c.975G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.975G>A
  hgvsp: ENST00000193403.6:c.975G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.975G>A
  hgvsp: ENST00000538545.2:c.975G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.780G>A
  hgvsp: ENST00000376839.3:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro325Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

14-69358894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358894
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358894
    reference: chr 14
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.767G>A
  hgvsp: ENSP00000366035.3:p.Arg256His
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.962G>A
  hgvsp: ENSP00000193403.6:p.Arg321His
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.962G>A
  hgvsp: ENSP00000377941.4:p.Arg321His
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.962G>A
  hgvsp: ENSP00000439828.2:p.Arg321His
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.962G>A
  hgvsp: ENSP00000414272.2:p.Arg321His
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4698
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg321His
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

14-69358895-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358895
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358895
    reference: chr 14
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.961C>T
  hgvsp: ENSP00000414272.2:p.Arg321Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.961C>T
  hgvsp: ENSP00000193403.6:p.Arg321Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.961C>T
  hgvsp: ENSP00000439828.2:p.Arg321Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.961C>T
  hgvsp: ENSP00000377941.4:p.Arg321Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.766C>T
  hgvsp: ENSP00000366035.3:p.Arg256Cys
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9480
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg321Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

14-69358898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358898
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358898
    reference: chr 14
allele count: 11
allele frequency: 9.062747165831795e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.958C>T
  hgvsp: ENSP00000439828.2:p.Arg320Trp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.958C>T
  hgvsp: ENSP00000193403.6:p.Arg320Trp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.958C>T
  hgvsp: ENSP00000377941.4:p.Arg320Trp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.958C>T
  hgvsp: ENSP00000414272.2:p.Arg320Trp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.763C>T
  hgvsp: ENSP00000366035.3:p.Arg255Trp
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9476
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg320Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

14-69358906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358906
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358906
    reference: chr 14
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.755G>A
  hgvsp: ENSP00000366035.3:p.Arg252Gln
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.950G>A
  hgvsp: ENSP00000193403.6:p.Arg317Gln
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.950G>A
  hgvsp: ENSP00000377941.4:p.Arg317Gln
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.950G>A
  hgvsp: ENSP00000439828.2:p.Arg317Gln
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.950G>A
  hgvsp: ENSP00000414272.2:p.Arg317Gln
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg317Gln
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

14-69358926-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358926
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358926
    reference: chr 14
allele count: 7
allele frequency: 5.768723628691983e-5
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.930A>G
  hgvsp: ENST00000438964.2:c.930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.930A>G
  hgvsp: ENST00000394419.4:c.930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.930A>G
  hgvsp: ENST00000538545.2:c.930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.930A>G
  hgvsp: ENST00000193403.6:c.930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.735A>G
  hgvsp: ENST00000376839.3:c.735A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln310Gln
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

14-69358930-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358930
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358930
    reference: chr 14
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.926T>A
  hgvsp: ENSP00000414272.2:p.Met309Lys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.926T>A
  hgvsp: ENSP00000193403.6:p.Met309Lys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.926T>A
  hgvsp: ENSP00000439828.2:p.Met309Lys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.731T>A
  hgvsp: ENSP00000366035.3:p.Met244Lys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.926T>A
  hgvsp: ENSP00000377941.4:p.Met309Lys
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met309Lys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

14-69358931-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358931
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358931
    reference: chr 14
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.925A>G
  hgvsp: ENSP00000439828.2:p.Met309Val
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.925A>G
  hgvsp: ENSP00000414272.2:p.Met309Val
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.730A>G
  hgvsp: ENSP00000366035.3:p.Met244Val
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.925A>G
  hgvsp: ENSP00000193403.6:p.Met309Val
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.925A>G
  hgvsp: ENSP00000377941.4:p.Met309Val
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4057
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met309Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

14-69358932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358932
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358932
    reference: chr 14
allele count: 10
allele frequency: 8.241984669908514e-5
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.924C>T
  hgvsp: ENST00000193403.6:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.924C>T
  hgvsp: ENST00000538545.2:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.729C>T
  hgvsp: ENST00000376839.3:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.924C>T
  hgvsp: ENST00000394419.4:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.924C>T
  hgvsp: ENST00000438964.2:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala308Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

14-69358936-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358936
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358936
    reference: chr 14
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.725A>T
  hgvsp: ENSP00000366035.3:p.His242Leu
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.920A>T
  hgvsp: ENSP00000439828.2:p.His307Leu
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.920A>T
  hgvsp: ENSP00000193403.6:p.His307Leu
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.920A>T
  hgvsp: ENSP00000414272.2:p.His307Leu
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.920A>T
  hgvsp: ENSP00000377941.4:p.His307Leu
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His307Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/14-69358938-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358938
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358938
    reference: chr 14
allele count: 2
allele frequency: 1.648777431534517e-5
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.723G>T
  hgvsp: ENSP00000366035.3:p.Met241Ile
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.918G>T
  hgvsp: ENSP00000377941.4:p.Met306Ile
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.918G>T
  hgvsp: ENSP00000193403.6:p.Met306Ile
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.918G>T
  hgvsp: ENSP00000439828.2:p.Met306Ile
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.918G>T
  hgvsp: ENSP00000414272.2:p.Met306Ile
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met306Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

14-69358945-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358945
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358945
    reference: chr 14
allele count: 3
allele frequency: 2.474879968321537e-5
allele num: 121218
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.911A>G
  hgvsp: ENSP00000377941.4:p.Asn304Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.716A>G
  hgvsp: ENSP00000366035.3:p.Asn239Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.716A>G
  hgvsp: ENST00000555616.1:c.716A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.911A>G
  hgvsp: ENSP00000414272.2:p.Asn304Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.911A>G
  hgvsp: ENSP00000193403.6:p.Asn304Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.911A>G
  hgvsp: ENSP00000439828.2:p.Asn304Ser
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn304Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

14-69358947-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358947
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358947
    reference: chr 14
allele count: 2
allele frequency: 1.651173158529135e-5
allele num: 121126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.714G>C
  hgvsp: ENSP00000366035.3:p.Glu238Asp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.909G>C
  hgvsp: ENSP00000193403.6:p.Glu303Asp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.714G>C
  hgvsp: ENSP00000450903.1:p.Glu238Asp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.909G>C
  hgvsp: ENSP00000377941.4:p.Glu303Asp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.909G>C
  hgvsp: ENSP00000439828.2:p.Glu303Asp
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.909G>C
  hgvsp: ENSP00000414272.2:p.Glu303Asp
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4683
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu303Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

14-69358949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358949
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358949
    reference: chr 14
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.907G>A
  hgvsp: ENSP00000377941.4:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.712G>A
  hgvsp: ENSP00000450903.1:p.Glu238Lys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.907G>A
  hgvsp: ENSP00000414272.2:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.712G>A
  hgvsp: ENSP00000366035.3:p.Glu238Lys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.907G>A
  hgvsp: ENSP00000439828.2:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.907G>A
  hgvsp: ENSP00000193403.6:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4681
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu303Lys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

14-69358950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358950
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358950
    reference: chr 14
allele count: 19
allele frequency: 1.569210439378923e-4
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.906C>T
  hgvsp: ENST00000538545.2:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.906C>T
  hgvsp: ENST00000394419.4:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.906C>T
  hgvsp: ENST00000193403.6:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.906C>T
  hgvsp: ENST00000438964.2:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.711C>T
  hgvsp: ENST00000555616.1:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.711C>T
  hgvsp: ENST00000376839.3:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19736
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro302Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

14-69358950-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358950
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358950
    reference: chr 14
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.906C>G
  hgvsp: ENST00000394419.4:c.906C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.711C>G
  hgvsp: ENST00000555616.1:c.711C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.906C>G
  hgvsp: ENST00000538545.2:c.906C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.906C>G
  hgvsp: ENST00000193403.6:c.906C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.711C>G
  hgvsp: ENST00000376839.3:c.711C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.906C>G
  hgvsp: ENST00000438964.2:c.906C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro302Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

14-69358960-T-TGGTTGCTGAGCCGCAGCTTGGTCTGCAGCGTGTTGAAGTTGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358960
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69359002
    reference: chr 14
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: TGGTTGCTGAGCCGCAGCTTGGTCTGCAGCGTGTTGAAGTTGA
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: protein altering
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10552
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/14-69358971-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358971
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358971
    reference: chr 14
allele count: 3
allele frequency: 2.502753028331164e-5
allele num: 119868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.885G>T
  hgvsp: ENST00000438964.2:c.885G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.885G>T
  hgvsp: ENST00000193403.6:c.885G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.690G>T
  hgvsp: ENST00000555616.1:c.690G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.885G>T
  hgvsp: ENST00000538545.2:c.885G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.885G>T
  hgvsp: ENST00000394419.4:c.885G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.690G>T
  hgvsp: ENST00000376839.3:c.690G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro295Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

14-69358971-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358971
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358971
    reference: chr 14
allele count: 197
allele frequency: 1.643474488604131e-3
allele num: 119868
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.885G>A
  hgvsp: ENST00000394419.4:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.690G>A
  hgvsp: ENST00000555616.1:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.885G>A
  hgvsp: ENST00000438964.2:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.885G>A
  hgvsp: ENST00000538545.2:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.885G>A
  hgvsp: ENST00000193403.6:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.690G>A
  hgvsp: ENST00000376839.3:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19225
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 10484
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 20912
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro295Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

14-69358972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358972
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358972
    reference: chr 14
allele count: 2
allele frequency: 1.668724760537997e-5
allele num: 119852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.884C>T
  hgvsp: ENSP00000193403.6:p.Pro295Leu
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.884C>T
  hgvsp: ENSP00000377941.4:p.Pro295Leu
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.689C>T
  hgvsp: ENSP00000450903.1:p.Pro230Leu
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.689C>T
  hgvsp: ENSP00000366035.3:p.Pro230Leu
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.884C>T
  hgvsp: ENSP00000414272.2:p.Pro295Leu
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.884C>T
  hgvsp: ENSP00000439828.2:p.Pro295Leu
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19296
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro295Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

14-69358976-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358976
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358976
    reference: chr 14
allele count: 1
allele frequency: 8.360924383799873e-6
allele num: 119604
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.880A>G
  hgvsp: ENSP00000377941.4:p.Ile294Val
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.685A>G
  hgvsp: ENSP00000366035.3:p.Ile229Val
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.880A>G
  hgvsp: ENSP00000439828.2:p.Ile294Val
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.880A>G
  hgvsp: ENSP00000414272.2:p.Ile294Val
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.880A>G
  hgvsp: ENSP00000193403.6:p.Ile294Val
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.685A>G
  hgvsp: ENSP00000450903.1:p.Ile229Val
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile294Val
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

14-69358981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358981
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358981
    reference: chr 14
allele count: 2
allele frequency: 1.679232926399221e-5
allele num: 119102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.875G>A
  hgvsp: ENSP00000439828.2:p.Arg292His
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.680G>A
  hgvsp: ENSP00000450903.1:p.Arg227His
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.680G>A
  hgvsp: ENSP00000366035.3:p.Arg227His
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.875G>A
  hgvsp: ENSP00000377941.4:p.Arg292His
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.875G>A
  hgvsp: ENSP00000193403.6:p.Arg292His
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.875G>A
  hgvsp: ENSP00000414272.2:p.Arg292His
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg292His
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

14-69358982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358982
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358982
    reference: chr 14
allele count: 1
allele frequency: 8.401949252226517e-6
allele num: 119020
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.874C>T
  hgvsp: ENSP00000377941.4:p.Arg292Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.679C>T
  hgvsp: ENSP00000366035.3:p.Arg227Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.874C>T
  hgvsp: ENSP00000414272.2:p.Arg292Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.679C>T
  hgvsp: ENSP00000450903.1:p.Arg227Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.874C>T
  hgvsp: ENSP00000193403.6:p.Arg292Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.874C>T
  hgvsp: ENSP00000439828.2:p.Arg292Cys
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18817
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28694
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg292Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS

14-69358982-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358982
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358982
    reference: chr 14
allele count: 1
allele frequency: 8.401949252226517e-6
allele num: 119020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.874C>A
  hgvsp: ENSP00000193403.6:p.Arg292Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.679C>A
  hgvsp: ENSP00000450903.1:p.Arg227Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.874C>A
  hgvsp: ENSP00000439828.2:p.Arg292Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.874C>A
  hgvsp: ENSP00000377941.4:p.Arg292Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.679C>A
  hgvsp: ENSP00000366035.3:p.Arg227Ser
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.874C>A
  hgvsp: ENSP00000414272.2:p.Arg292Ser
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg292Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

14-69358984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358984
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358984
    reference: chr 14
allele count: 35
allele frequency: 2.945582467893151e-4
allele num: 118822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.872G>A
  hgvsp: ENSP00000439828.2:p.Arg291His
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.677G>A
  hgvsp: ENSP00000366035.3:p.Arg226His
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.677G>A
  hgvsp: ENSP00000450903.1:p.Arg226His
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.872G>A
  hgvsp: ENSP00000193403.6:p.Arg291His
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.872G>A
  hgvsp: ENSP00000414272.2:p.Arg291His
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.872G>A
  hgvsp: ENSP00000377941.4:p.Arg291His
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10375
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9105
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg291His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

14-69358985-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358985
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358985
    reference: chr 14
allele count: 7
allele frequency: 5.892950347684071e-5
allele num: 118786
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.871C>T
  hgvsp: ENSP00000377941.4:p.Arg291Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.871C>T
  hgvsp: ENSP00000439828.2:p.Arg291Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.871C>T
  hgvsp: ENSP00000193403.6:p.Arg291Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.871C>T
  hgvsp: ENSP00000414272.2:p.Arg291Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.676C>T
  hgvsp: ENSP00000366035.3:p.Arg226Cys
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.676C>T
  hgvsp: ENSP00000450903.1:p.Arg226Cys
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4066
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Arg291Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

14-69358985-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69358985
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 69358985
    reference: chr 14
allele count: 1
allele frequency: 8.418500496691529e-6
allele num: 118786
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000377941
  ensembl transcript: ENST00000394419
  gene symbol: ACTN1
  hgvsc: ENST00000394419.4:c.871C>G
  hgvsp: ENSP00000377941.4:p.Arg291Gly
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000193403
  ensembl transcript: ENST00000193403
  gene symbol: ACTN1
  hgvsc: ENST00000193403.6:c.871C>G
  hgvsp: ENSP00000193403.6:p.Arg291Gly
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000439828
  ensembl transcript: ENST00000538545
  gene symbol: ACTN1
  hgvsc: ENST00000538545.2:c.871C>G
  hgvsp: ENSP00000439828.2:p.Arg291Gly
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000450903
  ensembl transcript: ENST00000555616
  gene symbol: ACTN1
  hgvsc: ENST00000555616.1:c.676C>G
  hgvsp: ENSP00000450903.1:p.Arg226Gly
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000366035
  ensembl transcript: ENST00000376839
  gene symbol: ACTN1
  hgvsc: ENST00000376839.3:c.676C>G
  hgvsp: ENSP00000366035.3:p.Arg226Gly
  variant of: http://identifiers.org/hgnc/163
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072110
  ensembl protein: ENSP00000414272
  ensembl transcript: ENST00000438964
  gene symbol: ACTN1
  hgvsc: ENST00000438964.2:c.871C>G
  hgvsp: ENSP00000414272.2:p.Arg291Gly
  variant of: http://identifiers.org/hgnc/163
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg291Gly
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 431
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

FS
type: SiteQuality
SIO_000300: 1.728e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.495718e6

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 43168
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1267
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 615
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 8.637e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.501516e6

VQSLOD
type: SiteQuality
SIO_000300: -1.036e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
all individuals: 1520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3323
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2398
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.043e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.41e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.305e1

DP
type: SiteQuality
SIO_000300: 1.619675e6

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

GenotypeQuality
all individuals: 2398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42075
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 593
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variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1746
allele frequency: 2.621857825029282e-2
allele num: 66594
num of homozygotes: 32

European (Finnish)
type: Population
allele count: 70
allele frequency: 1.062215477996965e-2
allele num: 6590
num of homozygotes: 0

Other
type: Population
allele count: 16
allele frequency: 1.766004415011038e-2
allele num: 906
num of homozygotes: 1

Latino
type: Population
allele count: 120
allele frequency: 1.037882719252724e-2
allele num: 11562
num of homozygotes: 3

East Asian
type: Population
allele count: 31
allele frequency: 3.584643848288622e-3
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 31
allele frequency: 2.98306389530408e-3
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 362
allele frequency: 2.193141887798376e-2
allele num: 16506
num of homozygotes: 17

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.043e0

VQSLOD
type: SiteQuality
SIO_000300: 6.41e0

DP
type: SiteQuality
SIO_000300: 1.619675e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

QD
type: SiteQuality
SIO_000300: 1.305e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

GenotypeQuality
all individuals: 2786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 42746
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.902e1

FS
type: SiteQuality
SIO_000300: 7.272e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: -1.594e0

QD
type: SiteQuality
SIO_000300: 8.49e0

DP
type: SiteQuality
SIO_000300: 1.531523e6

GenotypeQuality
all individuals: 7684
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 7.25e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 7.614e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 1.531562e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.037e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.366e0

GenotypeQuality
all individuals: 7689
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
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variant carriers: 0

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

GenotypeQuality
all individuals: 1709
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.233e0

FS
type: SiteQuality
SIO_000300: 1.3689e1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e0

QD
type: SiteQuality
SIO_000300: 1.771e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.531747e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.509e0

GenotypeQuality
all individuals: 1713
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 42715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.85058505850585e-4
allele num: 66660
num of homozygotes: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.69e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.287e1

DP
type: SiteQuality
SIO_000300: 1.533103e6

GenotypeQuality
all individuals: 674
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 42740
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.4047e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: -1.837e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.263e1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

DP
type: SiteQuality
SIO_000300: 1.531369e6

GenotypeQuality
all individuals: 1714
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1692
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 42735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.174e0

FS
type: SiteQuality
SIO_000300: 1.6588e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.777e0

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.531269e6

QD
type: SiteQuality
SIO_000300: 1.35e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

GenotypeQuality
all individuals: 669
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variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7659
bin: 6.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.530938e6

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -7.66e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.767e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.721e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
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variant carriers: 0

GenotypeQuality
all individuals: 2779
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variant carriers: 0

GenotypeQuality
all individuals: 2499
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variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.025e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e-1

FS
type: SiteQuality
SIO_000300: 9.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.996e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.530746e6

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 8.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
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GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.296e0

VQSLOD
type: SiteQuality
SIO_000300: -4.65e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.782e1

FS
type: SiteQuality
SIO_000300: 1.004e0

DP
type: SiteQuality
SIO_000300: 1.528743e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
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variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00336376741951e-5
allele num: 66592
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

DP
type: SiteQuality
SIO_000300: 1.526848e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

GenotypeQuality
all individuals: 129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
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variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

QD
type: SiteQuality
SIO_000300: 1.052e1

DP
type: SiteQuality
SIO_000300: 1.516875e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e0

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.942e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.96e-2

GenotypeQuality
all individuals: 2432
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41935
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variant carriers: 0

GenotypeQuality
all individuals: 197
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.218620521569583e-4
allele num: 16412
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.51585e6

FS
type: SiteQuality
SIO_000300: 5.987e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.5e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

GenotypeQuality
all individuals: 734
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1673
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variant carriers: 1

GenotypeQuality
all individuals: 1645
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

FS
type: SiteQuality
SIO_000300: 4.393e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 1.491e1

DP
type: SiteQuality
SIO_000300: 1.470018e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.05e-1

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 763
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 656
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50652324565368e-5
allele num: 66378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.467719e6

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

MQ
type: SiteQuality
SIO_000300: 5.813e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.083e0

FS
type: SiteQuality
SIO_000300: 3.882e0

VQSLOD
type: SiteQuality
SIO_000300: -2.049e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.611e0

GenotypeQuality
all individuals: 207
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 9.75e1
variant carriers: 15

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.445643793369314e-3
allele num: 10376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

FS
type: SiteQuality
SIO_000300: 1.627e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.036824630244491e-5
allele num: 66260
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.460839e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 9.04e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.351e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.53031555106663e-5
allele num: 65346
num of homozygotes: 0

Latino
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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
allele num: 876
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15716
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.89e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15720
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.979805979014057e-4
allele num: 10102
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65376
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.565494e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529566520847992e-5
allele num: 65378
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15774
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

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

East Asian
type: Population
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allele num: 8614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.262e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65506
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
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allele frequency: 6.315523556902867e-5
allele num: 15834
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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VQSLOD
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FS
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.061e1

QD
type: SiteQuality
SIO_000300: 3.54e0

GenotypeQuality
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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: 8618
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11420
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.526344709689236e-5
allele num: 65516
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African
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allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15798
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 2.059e1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.844e0

MQRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
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DP
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VQSLOD
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SIO_000300: -1.215e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.178942165101334e-5
allele num: 16184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11502
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66064
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.399e0

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.64528e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-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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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509297271190534e-5
allele num: 66256
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 898
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10300
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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QD
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SIO_000300: 8.75e0

VQSLOD
type: SiteQuality
SIO_000300: -4.505e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.658204e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-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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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
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South Asian
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allele count: 3
allele frequency: 1.834413599119482e-4
allele num: 16354
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Other
type: Population
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.73e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.661359e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 1.014e1

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.856e0

DP
type: SiteQuality
SIO_000300: 1.664577e6

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.082e1

VQSLOD
type: SiteQuality
SIO_000300: 5.77e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-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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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 2
allele frequency: 1.21758188238159e-4
allele num: 16426
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

Latino
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allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8644
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Other
type: Population
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African
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allele frequency: 0.0e0
allele num: 10348
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6554
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South Asian
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allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
type: SiteQuality
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ClippingRankSum
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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South Asian
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num of homozygotes: 0

Latino
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European (Non-Finnish)
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allele num: 66468
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 902
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East Asian
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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African
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allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

Latino
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Other
type: Population
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16494
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European (Non-Finnish)
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allele num: 66550
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East Asian
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African
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Other
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Latino
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allele frequency: 0.0e0
allele num: 11552
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6574
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.674256e6

VQSLOD
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66598
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Latino
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allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

Other
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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: 8648
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.489e0

VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: 7.64e-1

ReadPosRankSum
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QD
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FS
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.677301e6

MQ
type: SiteQuality
SIO_000300: 5.995e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 904
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Latino
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allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.9528e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.79e-1

DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.917e1

QD
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VQSLOD
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MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e-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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variant carriers: 0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16508
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.466e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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MQ
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SIO_000300: 5.905e1

FS
type: SiteQuality
SIO_000300: 2.824e0

MQRankSum
type: SiteQuality
SIO_000300: 9.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
num of homozygotes: 0

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

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

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

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

African
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allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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QD
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MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
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SIO_000300: 1.89e-1

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.681741e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.681741e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

QD
type: SiteQuality
SIO_000300: 1.213e1

MQ
type: SiteQuality
SIO_000300: 5.903e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQ
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SIO_000300: 5.903e1

QD
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InbreedingCoeff
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SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

DP
type: SiteQuality
SIO_000300: 1.681741e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-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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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.49707690001499e-5
allele num: 66710
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.401e0

FS
type: SiteQuality
SIO_000300: 2.251e0

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.681811e6

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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 num: 906
num of homozygotes: 0

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

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

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

Latino
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allele count: 14
allele frequency: 1.209398756046994e-3
allele num: 11576
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Other
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South Asian
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allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

African
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allele frequency: 4.249182849452028e-2
allele num: 10402
num of homozygotes: 7

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

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.99805126667666e-5
allele num: 66710
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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East Asian
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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allele num: 6614
num of homozygotes: 0

Latino
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Other
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South Asian
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African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

FS
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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MQ
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InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

FS
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DP
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ReadPosRankSum
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.23e-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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
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East Asian
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allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.628e0

ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 1.684437e6

MQRankSum
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SIO_000300: -1.75e-1

MQ
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VQSLOD
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FS
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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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 frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 5.995743022454058e-5
allele num: 66714
num of homozygotes: 0

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

South Asian
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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: 906
num of homozygotes: 0

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.752e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 5.936e1

InbreedingCoeff
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.256e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

InbreedingCoeff
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SIO_000300: -1.0e-4

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16512
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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

ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 1.684737e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-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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African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349123070004497e-4
allele num: 66710
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.111e0

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQ
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.685347e6

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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

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

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

East Asian
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allele frequency: 8.092485549132948e-4
allele num: 8650
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

African
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South Asian
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Other
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num of homozygotes: 0

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

Latino
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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: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Finnish)
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East Asian
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African
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Latino
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European (Non-Finnish)
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allele frequency: 1.499925003749812e-4
allele num: 66670
num of homozygotes: 0

Other
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MQ
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QD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

South Asian
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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: 8652
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.67e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0212e1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.897e1

QD
type: SiteQuality
SIO_000300: 1.084e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

DP
type: SiteQuality
SIO_000300: 1.683689e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.324e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
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SIO_000300: -4.273e0

DP
type: SiteQuality
SIO_000300: 1.683571e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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 frequency: 1.215066828675577e-4
allele num: 16460
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.198e0

VQSLOD
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MQ
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

Other
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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: 2
allele frequency: 1.927153594141453e-4
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

ReadPosRankSum
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FS
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.323e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.679066e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-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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variant carriers: 19

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10374
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele frequency: 6.089392278650591e-5
allele num: 16422
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East Asian
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allele count: 18
allele frequency: 2.081406105457909e-3
allele num: 8648
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.681116e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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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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South Asian
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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

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
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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: 6614
num of homozygotes: 0

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

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

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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African
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Other
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allele frequency: 0.0e0
allele num: 902
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European (Non-Finnish)
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allele frequency: 1.505479947007106e-5
allele num: 66424
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QD
type: SiteQuality
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InbreedingCoeff
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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allele num: 66088
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Latino
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European (Finnish)
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African
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South Asian
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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DP
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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allele num: 11566
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European (Finnish)
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African
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East Asian
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South Asian
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Other
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 6.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.058e1

DP
type: SiteQuality
SIO_000300: 1.656364e6

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

GenotypeQuality
all individuals: 3240
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9165
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4053
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514784294716432e-5
allele num: 66016
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

DP
type: SiteQuality
SIO_000300: 1.650402e6

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
all individuals: 4647
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1684
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3239
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2391
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.53e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.641739e6

QD
type: SiteQuality
SIO_000300: 1.149e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4052
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 315
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3897
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1684
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.823182711198428e-5
allele num: 10180
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

DP
type: SiteQuality
SIO_000300: 1.639843e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

FS
type: SiteQuality
SIO_000300: 1.141e0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1684
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2482
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15358
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520034048762692e-5
allele num: 65788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.639843e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQRankSum
type: SiteQuality
SIO_000300: 5.19e-1

FS
type: SiteQuality
SIO_000300: 1.141e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3885
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4078
bin: 9.75e1
variant carriers: 35

GenotypeQuality
all individuals: 4633
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2679
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65696
num of homozygotes: 0

East Asian
type: Population
allele count: 34
allele frequency: 3.936096318592266e-3
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15280
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.06e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.071e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.117e0

DP
type: SiteQuality
SIO_000300: 1.638075e6

GenotypeQuality
all individuals: 419
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9097
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2700
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28429
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3886
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.08976310821509e-5
allele num: 65684
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.846396218983852e-5
allele num: 10156
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15258
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

FS
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.374e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.63606e6