17-79479184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479184
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479184
    reference: chr 17
allele count: 6
allele frequency: 5.002000800320128e-5
allele num: 119952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.177-16G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.124-16G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.124-16G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.124-16G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.124-16G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.145-16G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.124-43G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.124-16G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.124-16G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.124-16G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.124-16G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.124-16G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.124-16G>A
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-79479185-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479185
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479185
    reference: chr 17
allele count: 3
allele frequency: 2.500917002901064e-5
allele num: 119956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.145-17C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.124-17C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.124-17C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.124-17C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.124-44C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.124-17C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.177-17C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.124-17C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.124-17C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.124-17C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.124-17C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.124-17C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.124-17C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

17-79479192-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479192
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479192
    reference: chr 17
allele count: 1
allele frequency: 8.340561820244212e-6
allele num: 119896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.124-24A>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.124-24A>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.177-24A>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.124-24A>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.124-24A>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.124-24A>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.124-24A>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.145-24A>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.124-24A>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.124-24A>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.124-51A>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.124-24A>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.124-24A>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

17-79479194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479194
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479194
    reference: chr 17
allele count: 2
allele frequency: 1.668669069550127e-5
allele num: 119856
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.124-26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.124-53C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.124-26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.124-26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.145-26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.124-26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.124-26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.124-26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.177-26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.124-26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.124-26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.124-26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.124-26C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-79479197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479197
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479197
    reference: chr 17
allele count: 13
allele frequency: 1.08476160277699e-4
allele num: 119842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.124-29C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.177-29C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.124-29C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.124-29C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.124-29C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.124-29C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.124-29C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.124-29C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.145-29C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.124-29C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.124-29C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.124-29C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.124-56C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

17-79479198-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479198
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479198
    reference: chr 17
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.124-30C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.124-30C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.177-30C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.124-57C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.145-30C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.124-30C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.124-30C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.124-30C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.124-30C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.124-30C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.124-30C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.124-30C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.124-30C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff

17-79479199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479199
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479199
    reference: chr 17
allele count: 4
allele frequency: 3.338173685176839e-5
allele num: 119826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.124-31G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.124-31G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.124-58G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.145-31G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.124-31G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.124-31G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.177-31G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.124-31G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.124-31G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.124-31G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.124-31G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.124-31G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.124-31G>A
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-79479200-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479200
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479200
    reference: chr 17
allele count: 8
allele frequency: 6.674787658317619e-5
allele num: 119854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.145-32C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.124-32C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.124-32C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.124-32C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.124-32C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.124-32C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.124-32C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.124-32C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.124-32C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.177-32C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.124-32C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+58C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.124-32C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

17-79479206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479206
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479206
    reference: chr 17
allele count: 3
allele frequency: 2.50363026388263e-5
allele num: 119826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.124-38C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.145-38C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.177-38C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+52C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.124-38C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.124-38C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.124-38C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.124-38C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.124-38C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.124-38C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.124-38C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.124-38C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.124-38C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

17-79479206-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479206
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479206
    reference: chr 17
allele count: 5
allele frequency: 4.172717106471049e-5
allele num: 119826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.124-38C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.124-38C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.124-38C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.124-38C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.177-38C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.145-38C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.124-38C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.124-38C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.124-38C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.124-38C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+52C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.124-38C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.124-38C>A
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-79479207-A-AACCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479207
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479211
    reference: chr 17
allele count: 1
allele frequency: 8.343763037129745e-6
allele num: 119850
alternate allele: AACCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.124-43_124-40dupGGGT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.145-43_145-40dupGGGT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.124-43_124-40dupGGGT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.124-43_124-40dupGGGT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.124-43_124-40dupGGGT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.124-43_124-40dupGGGT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.124-43_124-40dupGGGT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.124-43_124-40dupGGGT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.124-43_124-40dupGGGT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.124-43_124-40dupGGGT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.177-43_177-40dupGGGT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+47_123+50dupGGGT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.124-43_124-40dupGGGT
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

17-79479216-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479216
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479216
    reference: chr 17
allele count: 2
allele frequency: 1.668919708272835e-5
allele num: 119838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+42G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+42G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+42G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+42G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+42G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+42G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+42G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+42G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+42G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+42G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+42G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+42G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+42G>C
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-79479221-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479221
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479221
    reference: chr 17
allele count: 2
allele frequency: 1.66858554003771e-5
allele num: 119862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+37G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+37G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+37G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+37G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+37G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+37G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+37G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+37G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+37G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+37G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+37G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+37G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+37G>C
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

17-79479221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479221
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479221
    reference: chr 17
allele count: 2
allele frequency: 1.66858554003771e-5
allele num: 119862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+37G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+37G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+37G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+37G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+37G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+37G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+37G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+37G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+37G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+37G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+37G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+37G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+37G>A
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

17-79479222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479222
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479222
    reference: chr 17
allele count: 3
allele frequency: 2.50363026388263e-5
allele num: 119826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+36C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+36C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+36C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+36C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+36C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+36C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+36C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+36C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+36C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+36C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+36C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+36C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+36C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

17-79479225-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479225
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479224
    reference: chr 17
allele count: 1
allele frequency: 8.344041519950603e-6
allele num: 119846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+32delT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+32delT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+32delT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+32delT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+32delT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+32delT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+32delT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+32delT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+32delT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+32delT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+32delT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+32delT
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+32delT
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: GA
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-79479227-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479227
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479227
    reference: chr 17
allele count: 2
allele frequency: 1.669031127430527e-5
allele num: 119830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+31T>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+31T>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+31T>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+31T>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+31T>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+31T>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+31T>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+31T>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+31T>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+31T>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+31T>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+31T>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+31T>G
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

17-79479227-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479227
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479227
    reference: chr 17
allele count: 1
allele frequency: 8.345155637152633e-6
allele num: 119830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+31T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+31T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+31T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+31T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+31T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+31T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+31T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+31T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+31T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+31T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+31T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+31T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+31T>C
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

17-79479228-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479228
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479228
    reference: chr 17
allele count: 2
allele frequency: 1.670341417785795e-5
allele num: 119736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+30G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+30G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+30G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+30G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+30G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+30G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+30G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+30G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+30G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+30G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+30G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+30G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+30G>C
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

17-79479228-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479228
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479228
    reference: chr 17
allele count: 2
allele frequency: 1.670341417785795e-5
allele num: 119736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+30G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+30G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+30G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+30G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+30G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+30G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+30G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+30G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+30G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+30G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+30G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+30G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+30G>A
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-79479229-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479229
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479229
    reference: chr 17
allele count: 1
allele frequency: 8.350312301680083e-6
allele num: 119756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+29G>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+29G>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+29G>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+29G>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+29G>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+29G>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+29G>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+29G>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+29G>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+29G>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+29G>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+29G>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+29G>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-79479232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479232
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479232
    reference: chr 17
allele count: 18
allele frequency: 1.507360945952736e-4
allele num: 119414
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+26C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+26C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-79479232-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479232
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479232
    reference: chr 17
allele count: 1
allele frequency: 8.374227477515199e-6
allele num: 119414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+26C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+26C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+26C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+26C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+26C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+26C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+26C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+26C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+26C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+26C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+26C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+26C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+26C>A
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

17-79479235-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479235
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479235
    reference: chr 17
allele count: 1
allele frequency: 8.380824673147837e-6
allele num: 119320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+23C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+23C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+23C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+23C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+23C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+23C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+23C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+23C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+23C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+23C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+23C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+23C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+23C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

17-79479237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479237
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479237
    reference: chr 17
allele count: 1
allele frequency: 8.374227477515199e-6
allele num: 119414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+21G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+21G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+21G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+21G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+21G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+21G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+21G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+21G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+21G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+21G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+21G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+21G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+21G>A
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-79479240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479240
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479240
    reference: chr 17
allele count: 3
allele frequency: 2.512436560976835e-5
allele num: 119406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+18C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+18C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+18C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+18C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+18C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+18C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+18C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+18C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+18C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+18C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+18C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+18C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+18C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-79479242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479242
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479242
    reference: chr 17
allele count: 3
allele frequency: 2.511090650372478e-5
allele num: 119470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+16C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+16C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+16C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+16C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+16C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+16C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+16C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+16C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+16C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+16C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+16C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+16C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+16C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-79479243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479243
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479243
    reference: chr 17
allele count: 1
allele frequency: 8.369181326682624e-6
allele num: 119486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+15C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+15C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+15C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+15C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+15C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+15C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+15C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+15C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+15C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+15C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+15C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+15C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+15C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

17-79479245-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479245
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479245
    reference: chr 17
allele count: 1
allele frequency: 8.380262805041566e-6
allele num: 119328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+13C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+13C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+13C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+13C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+13C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+13C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+13C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+13C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+13C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+13C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+13C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+13C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+13C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-79479250-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479250
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479250
    reference: chr 17
allele count: 1
allele frequency: 8.352544184958738e-6
allele num: 119724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+8G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+8G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+8G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+8G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+8G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+8G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+8G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+8G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+8G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+8G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+8G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+8G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+8G>C
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.123+8G>C
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-79479250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479250
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479250
    reference: chr 17
allele count: 2
allele frequency: 1.670508836991748e-5
allele num: 119724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+8G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+8G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+8G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+8G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+8G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+8G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+8G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+8G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+8G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+8G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+8G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+8G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+8G>A
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.123+8G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-79479253-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479253
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479253
    reference: chr 17
allele count: 1
allele frequency: 8.34752412434472e-6
allele num: 119796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+5G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+5G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+5G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+5G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+5G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+5G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+5G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+5G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+5G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+5G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+5G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+5G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+5G>C
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.123+5G>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

17-79479253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479253
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479253
    reference: chr 17
allele count: 1
allele frequency: 8.34752412434472e-6
allele num: 119796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.123+5G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.123+5G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.176+5G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.123+5G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.123+5G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.123+5G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.123+5G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.123+5G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.144+5G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.123+5G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.123+5G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.123+5G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.123+5G>A
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.123+5G>A
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-79479259-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479259
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479259
    reference: chr 17
allele count: 1
allele frequency: 8.343484572897024e-6
allele num: 119854
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.122A>G
  hgvsp: ENSP00000461407.1:p.Gln41Arg
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.122A>G
  hgvsp: ENSP00000459119.1:p.Gln41Arg
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.122A>G
  hgvsp: ENSP00000462823.1:p.Gln41Arg
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.143A>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.122A>G
  hgvsp: ENSP00000331514.2:p.Gln41Arg
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.122A>G
  hgvsp: ENSP00000466346.1:p.Gln41Arg
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.122A>G
  hgvsp: ENSP00000460660.1:p.Gln41Arg
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.122A>G
  hgvsp: ENSP00000461672.1:p.Gln41Arg
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.122A>G
  hgvsp: ENSP00000460464.1:p.Gln41Arg
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.122A>G
  hgvsp: ENSP00000458162.1:p.Gln41Arg
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.122A>G
  hgvsp: ENSP00000458435.1:p.Gln41Arg
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.175A>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.122A>G
  hgvsp: ENSP00000459124.1:p.Gln41Arg
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln41Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-79479261-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479261
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479261
    reference: chr 17
allele count: 1
allele frequency: 8.338197281747686e-6
allele num: 119930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.120C>G
  hgvsp: ENSP00000466346.1:p.His40Gln
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.141C>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.120C>G
  hgvsp: ENSP00000461407.1:p.His40Gln
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.173C>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.120C>G
  hgvsp: ENSP00000458435.1:p.His40Gln
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.120C>G
  hgvsp: ENSP00000461672.1:p.His40Gln
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.120C>G
  hgvsp: ENSP00000462823.1:p.His40Gln
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.120C>G
  hgvsp: ENSP00000459124.1:p.His40Gln
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.120C>G
  hgvsp: ENSP00000331514.2:p.His40Gln
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.120C>G
  hgvsp: ENSP00000459119.1:p.His40Gln
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.120C>G
  hgvsp: ENSP00000460464.1:p.His40Gln
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.120C>G
  hgvsp: ENSP00000458162.1:p.His40Gln
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.120C>G
  hgvsp: ENSP00000460660.1:p.His40Gln
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His40Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-79479270-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479270
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479270
    reference: chr 17
allele count: 3
allele frequency: 2.496006389776358e-5
allele num: 120192
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.111C>T
  hgvsp: ENST00000575842.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.111C>T
  hgvsp: ENST00000573283.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.111C>T
  hgvsp: ENST00000571721.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.111C>T
  hgvsp: ENST00000575087.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.111C>T
  hgvsp: ENST00000572105.2:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.111C>T
  hgvsp: ENST00000570382.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.111C>T
  hgvsp: ENST00000575659.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.111C>T
  hgvsp: ENST00000571691.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.111C>T
  hgvsp: ENST00000576544.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.111C>T
  hgvsp: ENST00000331925.2:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.164C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.132C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.111C>T
  hgvsp: ENST00000575994.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg37Arg
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

17-79479270-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479270
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479270
    reference: chr 17
allele count: 2
allele frequency: 1.664004259850905e-5
allele num: 120192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.111C>A
  hgvsp: ENST00000331925.2:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.111C>A
  hgvsp: ENST00000573283.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.111C>A
  hgvsp: ENST00000575842.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.111C>A
  hgvsp: ENST00000571691.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.111C>A
  hgvsp: ENST00000575659.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.164C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.132C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.111C>A
  hgvsp: ENST00000575087.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.111C>A
  hgvsp: ENST00000570382.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.111C>A
  hgvsp: ENST00000575994.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.111C>A
  hgvsp: ENST00000572105.2:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.111C>A
  hgvsp: ENST00000571721.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.111C>A
  hgvsp: ENST00000576544.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg37Arg
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

17-79479276-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479276
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479276
    reference: chr 17
allele count: 14
allele frequency: 1.163293116628444e-4
allele num: 120348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.105C>T
  hgvsp: ENST00000572105.2:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.105C>T
  hgvsp: ENST00000575087.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.105C>T
  hgvsp: ENST00000575994.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.105C>T
  hgvsp: ENST00000331925.2:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.126C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.105C>T
  hgvsp: ENST00000575842.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.105C>T
  hgvsp: ENST00000570382.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.105C>T
  hgvsp: ENST00000575659.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.105C>T
  hgvsp: ENST00000573283.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.105C>T
  hgvsp: ENST00000571691.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.105C>T
  hgvsp: ENST00000571721.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.105C>T
  hgvsp: ENST00000576544.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.158C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val35Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

17-79479279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479279
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479279
    reference: chr 17
allele count: 1
allele frequency: 8.300132802124834e-6
allele num: 120480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.123C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.102C>T
  hgvsp: ENST00000572105.2:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.102C>T
  hgvsp: ENST00000575659.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.102C>T
  hgvsp: ENST00000571691.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.102C>T
  hgvsp: ENST00000573283.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.102C>T
  hgvsp: ENST00000331925.2:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.155C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.102C>T
  hgvsp: ENST00000575994.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.102C>T
  hgvsp: ENST00000575842.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.102C>T
  hgvsp: ENST00000570382.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.102C>T
  hgvsp: ENST00000571721.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.102C>T
  hgvsp: ENST00000575087.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.102C>T
  hgvsp: ENST00000576544.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile34Ile
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

17-79479282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479282
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479282
    reference: chr 17
allele count: 4
allele frequency: 3.316914606033468e-5
allele num: 120594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.99C>T
  hgvsp: ENST00000571721.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.99C>T
  hgvsp: ENST00000576544.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.152C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.120C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.99C>T
  hgvsp: ENST00000575842.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.99C>T
  hgvsp: ENST00000571691.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.99C>T
  hgvsp: ENST00000575994.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.99C>T
  hgvsp: ENST00000575659.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.99C>T
  hgvsp: ENST00000570382.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.99C>T
  hgvsp: ENST00000573283.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.99C>T
  hgvsp: ENST00000331925.2:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.99C>T
  hgvsp: ENST00000572105.2:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.99C>T
  hgvsp: ENST00000575087.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Ser33Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-79479285-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479285
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479285
    reference: chr 17
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.96T>A
  hgvsp: ENST00000575087.1:c.96T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.96T>A
  hgvsp: ENST00000571721.1:c.96T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.96T>A
  hgvsp: ENST00000575659.1:c.96T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.96T>A
  hgvsp: ENST00000571691.1:c.96T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.96T>A
  hgvsp: ENST00000575994.1:c.96T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.96T>A
  hgvsp: ENST00000572105.2:c.96T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.149T>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.96T>A
  hgvsp: ENST00000576544.1:c.96T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.96T>A
  hgvsp: ENST00000570382.1:c.96T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.96T>A
  hgvsp: ENST00000573283.1:c.96T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.96T>A
  hgvsp: ENST00000575842.1:c.96T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.117T>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.96T>A
  hgvsp: ENST00000331925.2:c.96T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro32Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-79479290-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479290
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479290
    reference: chr 17
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.91T>C
  hgvsp: ENSP00000461672.1:p.Phe31Leu
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.91T>C
  hgvsp: ENSP00000466346.1:p.Phe31Leu
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.91T>C
  hgvsp: ENSP00000462823.1:p.Phe31Leu
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.91T>C
  hgvsp: ENSP00000459124.1:p.Phe31Leu
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.91T>C
  hgvsp: ENSP00000331514.2:p.Phe31Leu
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.91T>C
  hgvsp: ENSP00000458162.1:p.Phe31Leu
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.91T>C
  hgvsp: ENSP00000460660.1:p.Phe31Leu
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.144T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.91T>C
  hgvsp: ENSP00000459119.1:p.Phe31Leu
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.112T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.91T>C
  hgvsp: ENSP00000460464.1:p.Phe31Leu
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.91T>C
  hgvsp: ENSP00000458435.1:p.Phe31Leu
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.91T>C
  hgvsp: ENSP00000461407.1:p.Phe31Leu
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe31Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-79479291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479291
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479291
    reference: chr 17
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.143G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.90G>A
  hgvsp: ENST00000571721.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.90G>A
  hgvsp: ENST00000571691.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.90G>A
  hgvsp: ENST00000570382.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.90G>A
  hgvsp: ENST00000575659.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.90G>A
  hgvsp: ENST00000575842.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.90G>A
  hgvsp: ENST00000331925.2:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.90G>A
  hgvsp: ENST00000572105.2:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.111G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.90G>A
  hgvsp: ENST00000575994.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.90G>A
  hgvsp: ENST00000576544.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.90G>A
  hgvsp: ENST00000575087.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.90G>A
  hgvsp: ENST00000573283.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val30Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-79479294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479294
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479294
    reference: chr 17
allele count: 7
allele frequency: 5.800656302827405e-5
allele num: 120676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.87C>T
  hgvsp: ENST00000571721.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.87C>T
  hgvsp: ENST00000575842.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.87C>T
  hgvsp: ENST00000570382.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.108C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.87C>T
  hgvsp: ENST00000572105.2:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.87C>T
  hgvsp: ENST00000576544.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.87C>T
  hgvsp: ENST00000575087.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.87C>T
  hgvsp: ENST00000575994.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.87C>T
  hgvsp: ENST00000575659.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.87C>T
  hgvsp: ENST00000573283.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.87C>T
  hgvsp: ENST00000571691.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.87C>T
  hgvsp: ENST00000331925.2:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.140C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala29Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

17-79479294-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479294
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479294
    reference: chr 17
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.87C>G
  hgvsp: ENST00000573283.1:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.87C>G
  hgvsp: ENST00000570382.1:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.87C>G
  hgvsp: ENST00000575994.1:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.140C>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.87C>G
  hgvsp: ENST00000575087.1:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.87C>G
  hgvsp: ENST00000576544.1:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.87C>G
  hgvsp: ENST00000575842.1:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.87C>G
  hgvsp: ENST00000331925.2:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.87C>G
  hgvsp: ENST00000571691.1:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.87C>G
  hgvsp: ENST00000575659.1:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.87C>G
  hgvsp: ENST00000572105.2:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.108C>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.87C>G
  hgvsp: ENST00000571721.1:c.87C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala29Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-79479294-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479294
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479294
    reference: chr 17
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.87C>A
  hgvsp: ENST00000575994.1:c.87C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.87C>A
  hgvsp: ENST00000575842.1:c.87C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.87C>A
  hgvsp: ENST00000573283.1:c.87C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.87C>A
  hgvsp: ENST00000575659.1:c.87C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.87C>A
  hgvsp: ENST00000571721.1:c.87C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.87C>A
  hgvsp: ENST00000331925.2:c.87C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.87C>A
  hgvsp: ENST00000575087.1:c.87C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.140C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.87C>A
  hgvsp: ENST00000570382.1:c.87C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.87C>A
  hgvsp: ENST00000571691.1:c.87C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.87C>A
  hgvsp: ENST00000572105.2:c.87C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.108C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.87C>A
  hgvsp: ENST00000576544.1:c.87C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala29Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-79479295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479295
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479295
    reference: chr 17
allele count: 4
allele frequency: 3.314221323699997e-5
allele num: 120692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.86C>T
  hgvsp: ENSP00000459124.1:p.Ala29Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.86C>T
  hgvsp: ENSP00000458435.1:p.Ala29Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.86C>T
  hgvsp: ENSP00000460660.1:p.Ala29Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.86C>T
  hgvsp: ENSP00000331514.2:p.Ala29Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.86C>T
  hgvsp: ENSP00000459119.1:p.Ala29Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.86C>T
  hgvsp: ENSP00000458162.1:p.Ala29Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.86C>T
  hgvsp: ENSP00000462823.1:p.Ala29Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.86C>T
  hgvsp: ENSP00000466346.1:p.Ala29Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.86C>T
  hgvsp: ENSP00000460464.1:p.Ala29Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.86C>T
  hgvsp: ENSP00000461407.1:p.Ala29Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.107C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.86C>T
  hgvsp: ENSP00000461672.1:p.Ala29Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.139C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala29Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-79479296-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479296
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479296
    reference: chr 17
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.85G>T
  hgvsp: ENSP00000460660.1:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.85G>T
  hgvsp: ENSP00000458435.1:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.85G>T
  hgvsp: ENSP00000460464.1:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.85G>T
  hgvsp: ENSP00000466346.1:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.85G>T
  hgvsp: ENSP00000462823.1:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.85G>T
  hgvsp: ENSP00000461672.1:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.85G>T
  hgvsp: ENSP00000458162.1:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.85G>T
  hgvsp: ENSP00000459119.1:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.85G>T
  hgvsp: ENSP00000461407.1:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.85G>T
  hgvsp: ENSP00000459124.1:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.106G>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.138G>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.85G>T
  hgvsp: ENSP00000331514.2:p.Ala29Ser
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala29Ser
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

17-79479299-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479299
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479299
    reference: chr 17
allele count: 28
allele frequency: 2.327398467241867e-4
allele num: 120306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.82C>G
  hgvsp: ENSP00000462823.1:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.82C>G
  hgvsp: ENSP00000460464.1:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.82C>G
  hgvsp: ENSP00000466346.1:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.82C>G
  hgvsp: ENSP00000461407.1:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.82C>G
  hgvsp: ENSP00000461672.1:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.82C>G
  hgvsp: ENSP00000459119.1:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.82C>G
  hgvsp: ENSP00000458435.1:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.135C>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.82C>G
  hgvsp: ENSP00000460660.1:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.103C>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.82C>G
  hgvsp: ENSP00000459124.1:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.82C>G
  hgvsp: ENSP00000331514.2:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.82C>G
  hgvsp: ENSP00000458162.1:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Arg28Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

17-79479300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479300
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479300
    reference: chr 17
allele count: 39
allele frequency: 3.229064895924755e-4
allele num: 120778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.81C>T
  hgvsp: ENST00000573283.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.81C>T
  hgvsp: ENST00000576544.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.81C>T
  hgvsp: ENST00000571691.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.81C>T
  hgvsp: ENST00000575087.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.81C>T
  hgvsp: ENST00000572105.2:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.81C>T
  hgvsp: ENST00000575994.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.81C>T
  hgvsp: ENST00000575842.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.81C>T
  hgvsp: ENST00000570382.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.81C>T
  hgvsp: ENST00000575659.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.102C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.81C>T
  hgvsp: ENST00000331925.2:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.134C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.81C>T
  hgvsp: ENST00000571721.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro27Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-79479300-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479300
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479300
    reference: chr 17
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.81C>G
  hgvsp: ENST00000573283.1:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.134C>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.81C>G
  hgvsp: ENST00000571691.1:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.81C>G
  hgvsp: ENST00000570382.1:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.81C>G
  hgvsp: ENST00000575994.1:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.81C>G
  hgvsp: ENST00000575659.1:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.81C>G
  hgvsp: ENST00000571721.1:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.81C>G
  hgvsp: ENST00000575842.1:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.81C>G
  hgvsp: ENST00000576544.1:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.81C>G
  hgvsp: ENST00000572105.2:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.81C>G
  hgvsp: ENST00000331925.2:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.81C>G
  hgvsp: ENST00000575087.1:c.81C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.102C>G
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro27Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

17-79479304-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479304
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479304
    reference: chr 17
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.77C>T
  hgvsp: ENSP00000459124.1:p.Ala26Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.77C>T
  hgvsp: ENSP00000461407.1:p.Ala26Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.77C>T
  hgvsp: ENSP00000460660.1:p.Ala26Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.77C>T
  hgvsp: ENSP00000466346.1:p.Ala26Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.77C>T
  hgvsp: ENSP00000460464.1:p.Ala26Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.98C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.77C>T
  hgvsp: ENSP00000459119.1:p.Ala26Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.77C>T
  hgvsp: ENSP00000462823.1:p.Ala26Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.77C>T
  hgvsp: ENSP00000458435.1:p.Ala26Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.130C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.77C>T
  hgvsp: ENSP00000461672.1:p.Ala26Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.77C>T
  hgvsp: ENSP00000458162.1:p.Ala26Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.77C>T
  hgvsp: ENSP00000331514.2:p.Ala26Val
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala26Val
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

17-79479304-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479304
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479304
    reference: chr 17
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.77C>A
  hgvsp: ENSP00000459119.1:p.Ala26Asp
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.77C>A
  hgvsp: ENSP00000458162.1:p.Ala26Asp
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.98C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.130C>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.77C>A
  hgvsp: ENSP00000462823.1:p.Ala26Asp
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.77C>A
  hgvsp: ENSP00000460464.1:p.Ala26Asp
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.77C>A
  hgvsp: ENSP00000460660.1:p.Ala26Asp
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.77C>A
  hgvsp: ENSP00000466346.1:p.Ala26Asp
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.77C>A
  hgvsp: ENSP00000459124.1:p.Ala26Asp
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.77C>A
  hgvsp: ENSP00000458435.1:p.Ala26Asp
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.77C>A
  hgvsp: ENSP00000461407.1:p.Ala26Asp
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.77C>A
  hgvsp: ENSP00000331514.2:p.Ala26Asp
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.77C>A
  hgvsp: ENSP00000461672.1:p.Ala26Asp
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala26Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

17-79479306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479306
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479306
    reference: chr 17
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.75C>T
  hgvsp: ENST00000576544.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.75C>T
  hgvsp: ENST00000575087.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.128C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.75C>T
  hgvsp: ENST00000575842.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.75C>T
  hgvsp: ENST00000571691.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.75C>T
  hgvsp: ENST00000575994.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.75C>T
  hgvsp: ENST00000572105.2:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.75C>T
  hgvsp: ENST00000571721.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.75C>T
  hgvsp: ENST00000573283.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.75C>T
  hgvsp: ENST00000575659.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.75C>T
  hgvsp: ENST00000570382.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.96C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.75C>T
  hgvsp: ENST00000331925.2:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp25Asp
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

17-79479309-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479309
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479309
    reference: chr 17
allele count: 74
allele frequency: 6.121368539474555e-4
allele num: 120888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.72C>T
  hgvsp: ENST00000573283.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.72C>T
  hgvsp: ENST00000571691.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.72C>T
  hgvsp: ENST00000575842.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.72C>T
  hgvsp: ENST00000575659.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.72C>T
  hgvsp: ENST00000576544.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.72C>T
  hgvsp: ENST00000575087.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.72C>T
  hgvsp: ENST00000331925.2:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.72C>T
  hgvsp: ENST00000571721.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.72C>T
  hgvsp: ENST00000570382.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.72C>T
  hgvsp: ENST00000575994.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.125C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.72C>T
  hgvsp: ENST00000572105.2:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.93C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Asp24Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-79479315-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479315
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479315
    reference: chr 17
allele count: 13
allele frequency: 1.074504488122593e-4
allele num: 120986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.66T>G
  hgvsp: ENST00000570382.1:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.66T>G
  hgvsp: ENST00000571721.1:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.66T>G
  hgvsp: ENST00000571691.1:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.66T>G
  hgvsp: ENST00000575087.1:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.66T>G
  hgvsp: ENST00000576544.1:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.66T>G
  hgvsp: ENST00000575994.1:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.66T>G
  hgvsp: ENST00000575842.1:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.66T>G
  hgvsp: ENST00000572105.2:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.66T>G
  hgvsp: ENST00000575659.1:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.119T>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.66T>G
  hgvsp: ENST00000331925.2:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.87T>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.66T>G
  hgvsp: ENST00000573283.1:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala22Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-79479317-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479317
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479317
    reference: chr 17
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.64G>C
  hgvsp: ENSP00000460464.1:p.Ala22Pro
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.117G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.64G>C
  hgvsp: ENSP00000460660.1:p.Ala22Pro
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.64G>C
  hgvsp: ENSP00000459119.1:p.Ala22Pro
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.64G>C
  hgvsp: ENSP00000459124.1:p.Ala22Pro
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.64G>C
  hgvsp: ENSP00000461407.1:p.Ala22Pro
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.64G>C
  hgvsp: ENSP00000461672.1:p.Ala22Pro
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.85G>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.64G>C
  hgvsp: ENSP00000462823.1:p.Ala22Pro
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.64G>C
  hgvsp: ENSP00000458435.1:p.Ala22Pro
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.64G>C
  hgvsp: ENSP00000466346.1:p.Ala22Pro
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.64G>C
  hgvsp: ENSP00000458162.1:p.Ala22Pro
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.64G>C
  hgvsp: ENSP00000331514.2:p.Ala22Pro
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala22Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-79479325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479325
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479325
    reference: chr 17
allele count: 2
allele frequency: 1.652428243303535e-5
allele num: 121034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.56C>T
  hgvsp: ENSP00000461407.1:p.Ala19Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.56C>T
  hgvsp: ENSP00000459119.1:p.Ala19Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.77C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.56C>T
  hgvsp: ENSP00000459124.1:p.Ala19Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.56C>T
  hgvsp: ENSP00000458162.1:p.Ala19Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.56C>T
  hgvsp: ENSP00000331514.2:p.Ala19Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.56C>T
  hgvsp: ENSP00000460660.1:p.Ala19Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.56C>T
  hgvsp: ENSP00000458435.1:p.Ala19Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.56C>T
  hgvsp: ENSP00000462823.1:p.Ala19Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.56C>T
  hgvsp: ENSP00000460464.1:p.Ala19Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.56C>T
  hgvsp: ENSP00000466346.1:p.Ala19Val
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.109C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.56C>T
  hgvsp: ENSP00000461672.1:p.Ala19Val
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala19Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

17-79479325-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479325
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479325
    reference: chr 17
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.56C>G
  hgvsp: ENSP00000459124.1:p.Ala19Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.56C>G
  hgvsp: ENSP00000458435.1:p.Ala19Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.56C>G
  hgvsp: ENSP00000460660.1:p.Ala19Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.56C>G
  hgvsp: ENSP00000331514.2:p.Ala19Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.56C>G
  hgvsp: ENSP00000462823.1:p.Ala19Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.56C>G
  hgvsp: ENSP00000466346.1:p.Ala19Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.56C>G
  hgvsp: ENSP00000461407.1:p.Ala19Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.56C>G
  hgvsp: ENSP00000458162.1:p.Ala19Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.56C>G
  hgvsp: ENSP00000460464.1:p.Ala19Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.77C>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.109C>G
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.56C>G
  hgvsp: ENSP00000461672.1:p.Ala19Gly
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.56C>G
  hgvsp: ENSP00000459119.1:p.Ala19Gly
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala19Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

17-79479326-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479326
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479326
    reference: chr 17
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.55G>A
  hgvsp: ENSP00000458162.1:p.Ala19Thr
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.55G>A
  hgvsp: ENSP00000461672.1:p.Ala19Thr
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.55G>A
  hgvsp: ENSP00000459124.1:p.Ala19Thr
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.55G>A
  hgvsp: ENSP00000462823.1:p.Ala19Thr
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.55G>A
  hgvsp: ENSP00000460464.1:p.Ala19Thr
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.55G>A
  hgvsp: ENSP00000459119.1:p.Ala19Thr
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.55G>A
  hgvsp: ENSP00000461407.1:p.Ala19Thr
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.55G>A
  hgvsp: ENSP00000458435.1:p.Ala19Thr
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.55G>A
  hgvsp: ENSP00000331514.2:p.Ala19Thr
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.108G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.76G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.55G>A
  hgvsp: ENSP00000466346.1:p.Ala19Thr
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.55G>A
  hgvsp: ENSP00000460660.1:p.Ala19Thr
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala19Thr
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: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

17-79479330-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479330
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479330
    reference: chr 17
allele count: 8
allele frequency: 6.609276119033063e-5
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.72C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.51C>T
  hgvsp: ENST00000575994.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.51C>T
  hgvsp: ENST00000575659.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.51C>T
  hgvsp: ENST00000572105.2:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.51C>T
  hgvsp: ENST00000576544.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.51C>T
  hgvsp: ENST00000575842.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.51C>T
  hgvsp: ENST00000571691.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.51C>T
  hgvsp: ENST00000570382.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.51C>T
  hgvsp: ENST00000573283.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.104C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.51C>T
  hgvsp: ENST00000575087.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.51C>T
  hgvsp: ENST00000331925.2:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.51C>T
  hgvsp: ENST00000571721.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys17Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-79479336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479336
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479336
    reference: chr 17
allele count: 31
allele frequency: 2.560586787372177e-4
allele num: 121066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.45C>T
  hgvsp: ENST00000575087.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.45C>T
  hgvsp: ENST00000570382.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.45C>T
  hgvsp: ENST00000573283.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.45C>T
  hgvsp: ENST00000575659.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.66C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.45C>T
  hgvsp: ENST00000571721.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.45C>T
  hgvsp: ENST00000576544.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.98C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.45C>T
  hgvsp: ENST00000575994.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.45C>T
  hgvsp: ENST00000575842.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.45C>T
  hgvsp: ENST00000572105.2:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.45C>T
  hgvsp: ENST00000331925.2:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.45C>T
  hgvsp: ENST00000571691.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly15Gly
num of homozygotes: 1
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-79479339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479339
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479339
    reference: chr 17
allele count: 2
allele frequency: 1.651991475723985e-5
allele num: 121066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.42C>T
  hgvsp: ENST00000570382.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.42C>T
  hgvsp: ENST00000575087.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.42C>T
  hgvsp: ENST00000576544.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.42C>T
  hgvsp: ENST00000571691.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.42C>T
  hgvsp: ENST00000331925.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.42C>T
  hgvsp: ENST00000575659.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.42C>T
  hgvsp: ENST00000573283.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.42C>T
  hgvsp: ENST00000575994.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.42C>T
  hgvsp: ENST00000575842.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.42C>T
  hgvsp: ENST00000572105.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.95C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.63C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.42C>T
  hgvsp: ENST00000571721.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser14Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-79479342-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479342
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479342
    reference: chr 17
allele count: 123
allele frequency: 1.015941191046502e-3
allele num: 121070
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.39C>T
  hgvsp: ENST00000575842.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.39C>T
  hgvsp: ENST00000571691.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.39C>T
  hgvsp: ENST00000575994.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.39C>T
  hgvsp: ENST00000571721.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.39C>T
  hgvsp: ENST00000570382.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.39C>T
  hgvsp: ENST00000575087.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.39C>T
  hgvsp: ENST00000575659.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.39C>T
  hgvsp: ENST00000572105.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.39C>T
  hgvsp: ENST00000331925.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.39C>T
  hgvsp: ENST00000576544.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.60C>T
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.39C>T
  hgvsp: ENST00000573283.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.92C>T
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 9.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly13Gly
num of homozygotes: 1
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

17-79479345-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479345
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479345
    reference: chr 17
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.36T>C
  hgvsp: ENST00000575659.1:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.57T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.36T>C
  hgvsp: ENST00000571721.1:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.36T>C
  hgvsp: ENST00000575087.1:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.36T>C
  hgvsp: ENST00000331925.2:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.36T>C
  hgvsp: ENST00000576544.1:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.89T>C
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.36T>C
  hgvsp: ENST00000570382.1:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.36T>C
  hgvsp: ENST00000571691.1:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.36T>C
  hgvsp: ENST00000575842.1:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.36T>C
  hgvsp: ENST00000572105.2:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.36T>C
  hgvsp: ENST00000573283.1:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.36T>C
  hgvsp: ENST00000575994.1:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn12Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

17-79479357-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79479357
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 79479357
    reference: chr 17
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460660
  ensembl transcript: ENST00000571721
  gene symbol: ACTG1
  hgvsc: ENST00000571721.1:c.24G>A
  hgvsp: ENST00000571721.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458162
  ensembl transcript: ENST00000575842
  gene symbol: ACTG1
  hgvsc: ENST00000575842.1:c.24G>A
  hgvsp: ENST00000575842.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000331514
  ensembl transcript: ENST00000331925
  gene symbol: ACTG1
  hgvsc: ENST00000331925.2:c.24G>A
  hgvsp: ENST00000331925.2:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461407
  ensembl transcript: ENST00000571691
  gene symbol: ACTG1
  hgvsc: ENST00000571691.1:c.24G>A
  hgvsp: ENST00000571691.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000461672
  ensembl transcript: ENST00000576544
  gene symbol: ACTG1
  hgvsc: ENST00000576544.1:c.24G>A
  hgvsp: ENST00000576544.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000458435
  ensembl transcript: ENST00000573283
  gene symbol: ACTG1
  hgvsc: ENST00000573283.1:c.24G>A
  hgvsp: ENST00000573283.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000460464
  ensembl transcript: ENST00000575994
  gene symbol: ACTG1
  hgvsc: ENST00000575994.1:c.24G>A
  hgvsp: ENST00000575994.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000462823
  ensembl transcript: ENST00000572105
  gene symbol: ACTG1
  hgvsc: ENST00000572105.2:c.24G>A
  hgvsp: ENST00000572105.2:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000466346
  ensembl transcript: ENST00000570382
  gene symbol: ACTG1
  hgvsc: ENST00000570382.1:c.24G>A
  hgvsp: ENST00000570382.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576917
  gene symbol: ACTG1
  hgvsc: ENST00000576917.1:n.77G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459119
  ensembl transcript: ENST00000575659
  gene symbol: ACTG1
  hgvsc: ENST00000575659.1:c.24G>A
  hgvsp: ENST00000575659.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184009
  ensembl transcript: ENST00000576214
  gene symbol: ACTG1
  hgvsc: ENST00000576214.2:n.45G>A
  variant of: http://identifiers.org/hgnc/144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184009
  ensembl protein: ENSP00000459124
  ensembl transcript: ENST00000575087
  gene symbol: ACTG1
  hgvsc: ENST00000575087.1:c.24G>A
  hgvsp: ENST00000575087.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/144
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu8Leu
num of homozygotes: 0
population: Other
reference allele: C

GenotypeDepth
all individuals: 3383
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 3535
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3177
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 156
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2873
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38239
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1016
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9905
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.136313801924717e-5
allele num: 65672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.86e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

DP
type: SiteQuality
SIO_000300: 3.166733e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

GenotypeDepth
all individuals: 1513
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1236
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2486
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10004
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38241
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522533495736906e-5
allele num: 65680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.904912836767037e-5
allele num: 10096
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: 6608
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.341e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.75e-1

DP
type: SiteQuality
SIO_000300: 3.166618e6

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

FS
type: SiteQuality
SIO_000300: 4.926e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

GenotypeDepth
all individuals: 3439
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3377
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2487
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2879
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65630
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

East Asian
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allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -8.69e-1

DP
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SIO_000300: 3.165343e6

QD
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InbreedingCoeff
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SIO_000300: 1.7e-3

VQSLOD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 2.38e0

MQRankSum
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SIO_000300: 7.07e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524157902758726e-5
allele num: 65610
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
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allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
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ClippingRankSum
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SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 3.64e-1

VQSLOD
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BaseQRankSum
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SIO_000300: 1.03e0

MQRankSum
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SIO_000300: 1.39e-1

InbreedingCoeff
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.092e1

ReadPosRankSum
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SIO_000300: 2.05e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 13

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.049152335650689e-5
allele num: 65592
num of homozygotes: 0

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

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

Latino
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allele count: 2
allele frequency: 1.733102253032929e-4
allele num: 11540
num of homozygotes: 0

South Asian
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allele count: 8
allele frequency: 4.849072614862408e-4
allele num: 16498
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: 1.81e0

MQRankSum
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SIO_000300: 2.77e-1

ReadPosRankSum
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SIO_000300: 4.02e-1

DP
type: SiteQuality
SIO_000300: 3.165888e6

VQSLOD
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SIO_000300: 4.7e0

QD
type: SiteQuality
SIO_000300: 1.359e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524390243902439e-5
allele num: 65600
num of homozygotes: 0

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

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

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

Other
type: Population
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: 6608
num of homozygotes: 0

MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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SIO_000300: -1.43e-1

MQ
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SIO_000300: 5.969e1

BaseQRankSum
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ClippingRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 1.092e0

QD
type: SiteQuality
SIO_000300: 1.41e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
type: Population
allele count: 4
allele frequency: 4.640371229698376e-4
allele num: 8620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65582
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: 8.45e-1

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 5
allele frequency: 3.031037827352086e-4
allele num: 16496
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.59920291110726e-4
allele num: 11542
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
type: SiteQuality
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FS
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DP
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SIO_000300: 3.166431e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

VQSLOD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.573867967677999e-5
allele num: 65590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.18e-1

ReadPosRankSum
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QD
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DP
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.956e1

InbreedingCoeff
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SIO_000300: 1.4e-3

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

African
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allele frequency: 4.966229638458482e-4
allele num: 10068
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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DP
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MQ
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QD
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ClippingRankSum
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BaseQRankSum
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SIO_000300: 3.25e-1

ReadPosRankSum
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SIO_000300: 7.45e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8622
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

Latino
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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
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European (Non-Finnish)
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allele count: 1
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allele num: 65602
num of homozygotes: 0

Other
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.09e0

MQRankSum
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SIO_000300: -2.652e0

ClippingRankSum
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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QD
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SIO_000300: 9.279999999999999e0

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.049245311785333e-5
allele num: 65590
num of homozygotes: 0

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

African
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Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -4.0e-4

MQ
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SIO_000300: 5.939e1

DP
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FS
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 9.54e-1

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.048687540014024e-5
allele num: 65602
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.048687540014024e-5
allele num: 65602
num of homozygotes: 0

South Asian
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East Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65578
num of homozygotes: 0

African
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allele count: 0
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Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8626
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European (Finnish)
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allele count: 0
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South Asian
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allele frequency: 1.818181818181818e-4
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Other
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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ClippingRankSum
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DP
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QD
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

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

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

South Asian
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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East Asian
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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DP
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QD
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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South Asian
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VQSLOD
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QD
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FS
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DP
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MQ
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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DP
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VQSLOD
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InbreedingCoeff
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East Asian
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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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variant carriers: 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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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11548
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 1
allele frequency: 1.531252871099133e-5
allele num: 65306
num of homozygotes: 0

Other
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num of homozygotes: 0

African
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European (Finnish)
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South Asian
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East Asian
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Latino
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DP
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ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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SIO_000300: -3.48e-1

InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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Other
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ReadPosRankSum
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DP
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QD
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MQ
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 65350
num of homozygotes: 0

African
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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
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num of homozygotes: 0

South Asian
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allele num: 16506
num of homozygotes: 0

Latino
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East Asian
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Other
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InbreedingCoeff
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FS
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SIO_000300: 5.2e-1

ReadPosRankSum
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DP
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MQ
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 3
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allele num: 65366
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.039698461912578e-5
allele num: 65796
num of homozygotes: 0

South Asian
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European (Finnish)
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East Asian
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Latino
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FS
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QD
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65796
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European (Finnish)
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South Asian
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DP
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 898
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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African
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allele frequency: 1.075268817204301e-3
allele num: 10230
num of homozygotes: 0

Latino
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European (Non-Finnish)
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allele num: 65896
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South Asian
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66000
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African
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Latino
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DP
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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African
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South Asian
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Latino
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European (Finnish)
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Other
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VQSLOD
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MQRankSum
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DP
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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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 (Finnish)
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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South Asian
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InbreedingCoeff
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VQSLOD
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DP
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FS
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QD
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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European (Non-Finnish)
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DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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European (Finnish)
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African
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BaseQRankSum
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FS
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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ClippingRankSum
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FS
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MQRankSum
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DP
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VQSLOD
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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South Asian
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FS
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BaseQRankSum
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DP
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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FS
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MQ
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VQSLOD
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DP
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.882456459736635e-4
allele num: 65916
num of homozygotes: 0

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

African
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allele frequency: 8.816614420062696e-4
allele num: 10208
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Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

Latino
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allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

African
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allele frequency: 9.674922600619196e-5
allele num: 10336
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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510254628930438e-5
allele num: 66214
num of homozygotes: 0

South Asian
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allele frequency: 2.120184153137872e-3
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MQ
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VQSLOD
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
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African
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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QD
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele num: 66272
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East Asian
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African
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Other
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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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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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 4.222845594667149e-4
allele num: 66306
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Latino
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Other
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South Asian
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QD
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FS
type: SiteQuality
SIO_000300: 5.19e-1

InbreedingCoeff
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SIO_000300: -9.0e-4

DP
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SIO_000300: 3.197666e6

MQ
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SIO_000300: 5.962e1

BaseQRankSum
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SIO_000300: 8.42e-1

MQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -3.81e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 13
allele frequency: 1.254099942118464e-3
allele num: 10366
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66386
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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Latino
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allele frequency: 0.0e0
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Other
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MQRankSum
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FS
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ClippingRankSum
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DP
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QD
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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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: 1.505888022166672e-5
allele num: 66406
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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FS
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SIO_000300: 2.459e0

MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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SIO_000300: 9.869999999999999e0

InbreedingCoeff
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SIO_000300: -2.0e-4

DP
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SIO_000300: 3.195505e6

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
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

European (Non-Finnish)
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allele count: 1
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allele num: 66424
num of homozygotes: 0

South Asian
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Other
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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variant carriers: 1

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

African
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allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 11566
num of homozygotes: 0

African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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MQRankSum
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BaseQRankSum
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QD
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DP
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.941230911614993e-4
allele num: 8644
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.523548707454332e-5
allele num: 66458
num of homozygotes: 0

South Asian
type: Population
allele count: 19
allele frequency: 1.150817686250757e-3
allele num: 16510
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.518e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

DP
type: SiteQuality
SIO_000300: 3.199979e6

QD
type: SiteQuality
SIO_000300: 1.228e1

VQSLOD
type: SiteQuality
SIO_000300: 5.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

GenotypeDepth
all individuals: 4873
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4476
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variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3191
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variant carriers: 0

GenotypeDepth
all individuals: 8412
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variant carriers: 0

GenotypeDepth
all individuals: 2036
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1083
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 3036
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11075
bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

FS
type: SiteQuality
SIO_000300: 3.425e0

DP
type: SiteQuality
SIO_000300: 3.197808e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

QD
type: SiteQuality
SIO_000300: 1.089e1

GenotypeDepth
all individuals: 4900
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 187
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1568
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
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variant carriers: 0

GenotypeQuality
all individuals: 11073
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 1083
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 1942
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variant carriers: 0

GenotypeQuality
all individuals: 38461
bin: 9.75e1
variant carriers: 122

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

GenotypeQuality
all individuals: 3036
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.457814661134163e-4
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 34
allele frequency: 3.933364183248496e-3
allele num: 8644
num of homozygotes: 0

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

African
type: Population
allele count: 8
allele frequency: 7.716049382716049e-4
allele num: 10368
num of homozygotes: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 75
allele frequency: 1.128464385663988e-3
allele num: 66462
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

FS
type: SiteQuality
SIO_000300: 5.17e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.207695e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.724e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

GenotypeDepth
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3430
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4317
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3646
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2028
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variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1943
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11088
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variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1521
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66462
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: 904
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

DP
type: SiteQuality
SIO_000300: 3.198551e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.26e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

FS
type: SiteQuality
SIO_000300: 6.145e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

GenotypeDepth
all individuals: 8418
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4479
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3196
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2485
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3431
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3646
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38442
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

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

GenotypeQuality
all individuals: 3041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
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variant carriers: 0

GenotypeQuality
all individuals: 180
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variant carriers: 0

GenotypeQuality
all individuals: 1525
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variant carriers: 0

GenotypeQuality
all individuals: 1718
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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