http://identifiers.org/exac.variant/1-1239499-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1239499
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1239499
    reference: chr 1
allele count: 1
allele frequency: 5.098919029165817e-5
allele num: 19612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.160G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.119G>T
  hgvsp: ENSP00000347075.2:p.Arg40Leu
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000492936
  gene symbol: ACAP3
  hgvsc: ENST00000492936.1:n.1811G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.72G>T
  hgvsp: ENST00000354700.5:c.72G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.87G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-55G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.193G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000478065
  gene symbol: ACAP3
  hgvsc: ENST00000478065.1:n.783G>T
  variant of: http://identifiers.org/hgnc/16754
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg40Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

1-1239516-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1239516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1239516
    reference: chr 1
allele count: 1
allele frequency: 5.104645227156713e-5
allele num: 19590
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000478065
  gene symbol: ACAP3
  hgvsc: ENST00000478065.1:n.766A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.176A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.143A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.102A>G
  hgvsp: ENST00000354980.3:c.102A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.55A>G
  hgvsp: ENSP00000346733.5:p.Ile19Val
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000492936
  gene symbol: ACAP3
  hgvsc: ENST00000492936.1:n.1794A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-72A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.70A>G
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile19Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum

1-1239519-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1239519
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1239519
    reference: chr 1
allele count: 1
allele frequency: 5.105687736138058e-5
allele num: 19586
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.52A>G
  hgvsp: ENSP00000346733.5:p.Thr18Ala
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000492936
  gene symbol: ACAP3
  hgvsc: ENST00000492936.1:n.1791A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.99A>G
  hgvsp: ENST00000354980.3:c.99A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000478065
  gene symbol: ACAP3
  hgvsc: ENST00000478065.1:n.763A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-75A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.173A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.67A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.140A>G
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr18Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-1239520-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1239520
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1239520
    reference: chr 1
allele count: 1
allele frequency: 5.10673067102441e-5
allele num: 19582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-76G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000478065
  gene symbol: ACAP3
  hgvsc: ENST00000478065.1:n.762G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.51G>A
  hgvsp: ENST00000354700.5:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.172G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.98G>A
  hgvsp: ENSP00000347075.2:p.Arg33Gln
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.66G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.139G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000492936
  gene symbol: ACAP3
  hgvsc: ENST00000492936.1:n.1790G>A
  variant of: http://identifiers.org/hgnc/16754
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4143
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg33Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-1239536-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1239536
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1239536
    reference: chr 1
allele count: 2
allele frequency: 1.023227258774174e-4
allele num: 19546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000492936
  gene symbol: ACAP3
  hgvsc: ENST00000492936.1:n.1774G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.48-13G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000478065
  gene symbol: ACAP3
  hgvsc: ENST00000478065.1:n.746G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.63-13G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.136-13G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.169-13G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-79-13G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.95-13G>T
  variant of: http://identifiers.org/hgnc/16754
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

1-1239540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1239540
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1239540
    reference: chr 1
allele count: 1
allele frequency: 5.117183502200389e-5
allele num: 19542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.95-17C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-79-17C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.63-17C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.48-17C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.169-17C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000492936
  gene symbol: ACAP3
  hgvsc: ENST00000492936.1:n.1770C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000478065
  gene symbol: ACAP3
  hgvsc: ENST00000478065.1:n.742C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.136-17C>T
  variant of: http://identifiers.org/hgnc/16754
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4143
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

1-1242410-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242410
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242410
    reference: chr 1
allele count: 1
allele frequency: 8.846426043878273e-5
allele num: 11304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2412G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+307G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+739G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.135+42G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+739G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+739G>A
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum

1-1242412-CGAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242412
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242409
    reference: chr 1
allele count: 1
allele frequency: 8.823010411152286e-5
allele num: 11334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+302_94+304delCTC
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.135+37_135+39delCTC
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2407_168+2409delCTC
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+734_-80+736delCTC
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+734_62+736delCTC
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+734_47+736delCTC
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: CGAG
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-1242415-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242415
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242415
    reference: chr 1
allele count: 1
allele frequency: 8.724480893386844e-5
allele num: 11462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.135+37C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2407C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+302C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+734C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+734C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+734C>G
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-1242417-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242417
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242417
    reference: chr 1
allele count: 1
allele frequency: 8.69414014953921e-5
allele num: 11502
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.135+35A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+732A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2405A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+732A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+732A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+300A>G
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS

1-1242418-CGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242418
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242416
    reference: chr 1
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.135+32_135+33delAC
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+729_62+730delAC
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+729_-80+730delAC
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2402_168+2403delAC
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+297_94+298delAC
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+729_47+730delAC
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: CGT
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD

1-1242448-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242448
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242448
    reference: chr 1
allele count: 6
allele frequency: 4.891570194032284e-4
allele num: 12266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.135+4C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+701C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+269C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+701C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2374C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+701C>G
  variant of: http://identifiers.org/hgnc/16754
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
hgvs: n.135+4C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

1-1242468-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242468
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242468
    reference: chr 1
allele count: 1695
allele frequency: 1.376258525495291e-1
allele num: 12316
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+681C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.119C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+249C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+681C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2354C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+681C>T
  variant of: http://identifiers.org/hgnc/16754
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 2.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 126
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 6.25e1
  variant carriers: 3
num of homozygotes: 187
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-1242477-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242477
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242477
    reference: chr 1
allele count: 1
allele frequency: 8.116883116883117e-5
allele num: 12320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.110G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+672G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+672G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+240G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2345G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+672G>A
  variant of: http://identifiers.org/hgnc/16754
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-1242516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242516
    reference: chr 1
allele count: 1
allele frequency: 8.106355382619974e-5
allele num: 12336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+633C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+201C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2306C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+633C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.71C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+633C>T
  variant of: http://identifiers.org/hgnc/16754
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-1242560-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242560
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242560
    reference: chr 1
allele count: 3
allele frequency: 2.439024390243902e-4
allele num: 12300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2262C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+589C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+589C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+589C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+157C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-24C>T
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

1-1242567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242567
    reference: chr 1
allele count: 1
allele frequency: 8.152616990053807e-5
allele num: 12266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+582G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+150G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2255G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+582G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+582G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-31G>A
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-1242575-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242575
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242575
    reference: chr 1
allele count: 2
allele frequency: 1.633453119895459e-4
allele num: 12244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+574G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+574G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2247G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+574G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+142G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-39G>A
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-1242576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242576
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242576
    reference: chr 1
allele count: 1
allele frequency: 8.160600620205648e-5
allele num: 12254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-40C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+573C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+573C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+141C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+573C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2246C>T
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-1242669-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242669
    reference: chr 1
allele count: 4
allele frequency: 3.254678600488202e-4
allele num: 12290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+48G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+480G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+480G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+480G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-133G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2153G>T
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-1242681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242681
    reference: chr 1
allele count: 4
allele frequency: 3.249918752031199e-4
allele num: 12308
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+468C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+36C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+468C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+468C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2141C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-145C>T
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

1-1242699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242699
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242699
    reference: chr 1
allele count: 2
allele frequency: 1.62311313098523e-4
allele num: 12322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2123G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+450G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+450G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+18G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+450G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-163G>A
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-1242700-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242700
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242700
    reference: chr 1
allele count: 11
allele frequency: 8.922777417261519e-4
allele num: 12328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+17C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+449C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-164C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+449C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2122C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+449C>T
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

1-1242707-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242707
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242707
    reference: chr 1
allele count: 8936
allele frequency: 7.230943518368668e-1
allele num: 12358
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+442T>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+442T>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+442T>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-171T>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.94+10T>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2115T>C
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 541
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.25e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 2.5e0
  variant carriers: 768
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 521
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 345
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 489
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 392
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 373
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 471
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 494
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 485
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 290
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 409
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 5499
  bin: 9.75e1
  variant carriers: 5319
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.25e1
  variant carriers: 281
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 7.5e0
  variant carriers: 462
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 6.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 10
num of homozygotes: 3381
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-1242740-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242740
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242740
    reference: chr 1
allele count: 1
allele frequency: 8.128759551292472e-5
allele num: 12302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+409C>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.71C>A
  hgvsp: ENSP00000347075.2:p.Ala24Asp
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+409C>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2082C>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+409C>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-204C>A
  variant of: http://identifiers.org/hgnc/16754
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala24Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-1242750-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242750
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242750
    reference: chr 1
allele count: 1
allele frequency: 8.130081300813008e-5
allele num: 12300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-214G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.61G>T
  hgvsp: ENSP00000347075.2:p.Glu21Ter
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2072G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+399G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+399G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+399G>T
  variant of: http://identifiers.org/hgnc/16754
canonical: false
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu21Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

1-1242767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242767
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242767
    reference: chr 1
allele count: 1
allele frequency: 8.13140348024069e-5
allele num: 12298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-231C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.48-4C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+382C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+382C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2055C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+382C>T
  variant of: http://identifiers.org/hgnc/16754
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
hgvs: c.48-4C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-1242773-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242773
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242773
    reference: chr 1
allele count: 1
allele frequency: 8.136696501220504e-5
allele num: 12290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.48-10C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+376C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+376C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+376C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-237C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2049C>T
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

1-1242774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242774
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242774
    reference: chr 1
allele count: 1
allele frequency: 8.135372600065082e-5
allele num: 12292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+375C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2048C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-238C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+375C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.48-11C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+375C>T
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

1-1242775-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242775
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242775
    reference: chr 1
allele count: 2
allele frequency: 1.627074520013016e-4
allele num: 12292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2047T>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.48-12T>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-239T>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+374T>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+374T>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+374T>C
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

1-1242776-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242776
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242776
    reference: chr 1
allele count: 1
allele frequency: 8.134049129656744e-5
allele num: 12294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+373A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+373A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.48-13A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2046A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+373A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-240A>G
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

1-1242786-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242786
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242786
    reference: chr 1
allele count: 1
allele frequency: 8.139345596614032e-5
allele num: 12286
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+363C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-250C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2036C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+363C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.48-23C>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+363C>G
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-1242789-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242789
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242788
    reference: chr 1
allele count: 1
allele frequency: 8.145975887911372e-5
allele num: 12276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+359delT
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2032delT
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+359delT
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.48-27delT
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-254delT
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+359delT
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: CA
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-1242800-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242800
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242799
    reference: chr 1
allele count: 1
allele frequency: 8.156606851549755e-5
allele num: 12260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2021delG
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+348delG
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+348delG
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+348delG
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-265delG
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.48-38delG
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: GC
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-1242807-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1242807
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1242807
    reference: chr 1
allele count: 2
allele frequency: 1.635590448151783e-4
allele num: 12228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+2015G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+342G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.51-271G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+342G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+342G>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.48-44G>T
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

1-1243119-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1243119
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1243119
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 28
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+1703G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000346733
  ensembl transcript: ENST00000354700
  gene symbol: ACAP3
  hgvsc: ENST00000354700.5:c.47+30G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000438966
  gene symbol: ACAP3
  hgvsc: ENST00000438966.1:n.50+30G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000321139
  ensembl transcript: ENST00000353662
  gene symbol: ACAP3
  hgvsc: ENST00000353662.3:c.-80+30G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000479108
  gene symbol: ACAP3
  hgvsc: ENST00000479108.1:n.62+30G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl protein: ENSP00000347075
  ensembl transcript: ENST00000354980
  gene symbol: ACAP3
  hgvsc: ENST00000354980.3:c.47+30G>A
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 801
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

1-1243973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1243973
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1243973
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 7650
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-51C>T
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+849G>A
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2222
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

1-1243974-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1243974
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1243975
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 7730
alternate allele: AG
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-48dupG
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+847dupC
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 43
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4566
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

1-1243976-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1243976
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1243976
    reference: chr 1
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-48G>A
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+846C>T
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2336
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

1-1243983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1243983
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1243983
    reference: chr 1
allele count: 1
allele frequency: 1.207146306132303e-4
allele num: 8284
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-41G>A
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+839C>T
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 2.072968490878939e-4
  allele num: 4824
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-1243984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1243984
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1243984
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 8312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+838G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-40C>T
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12215
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 504
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-1243988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1243988
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1243988
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 9078
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-36G>A
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+834C>T
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2746
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

1-1243990-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1243990
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1243990
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 9440
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-34A>T
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+832T>A
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
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  allele num: 316
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-1243992-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1243992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1243992
    reference: chr 1
allele count: 32
allele frequency: 3.249390739236393e-3
allele num: 9848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+830C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-32G>A
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.2G>A
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

1-1243997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1243997
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1243997
    reference: chr 1
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-27C>T
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.7C>T
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+825G>A
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20472
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26778
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-1243998-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1243998
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1243998
    reference: chr 1
allele count: 1
allele frequency: 8.483203257550051e-5
allele num: 11788
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+824A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.8T>C
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-26T>C
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21198
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26338
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

1-1244004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244004
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244004
    reference: chr 1
allele count: 23
allele frequency: 1.732710562000904e-3
allele num: 13274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+818C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-20G>A
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.14G>A
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24550
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24717
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 456
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 4
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.75e1
  variant carriers: 24
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-1244007-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244007
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244007
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 13544
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+815T>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.17A>G
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-17A>G
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25182
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-1244012-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244012
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244012
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 15144
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-12C>A
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.22C>A
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+810G>T
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26588
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19507
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-1244013-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244013
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244013
    reference: chr 1
allele count: 11
allele frequency: 7.027855865065168e-4
allele num: 15652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+809A>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.23T>G
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-11T>G
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27096
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 20013
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1500
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 19251
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 25
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 561
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genotype quality: GenotypeQuality
  all individuals: 580
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genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-1244016-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244016
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244016
    reference: chr 1
allele count: 1
allele frequency: 6.144015728680265e-5
allele num: 16276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.26G>T
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+806C>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-8G>T
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19414
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 113
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 88
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18682
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-1244017-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244017
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244017
    reference: chr 1
allele count: 6
allele frequency: 3.775484520513466e-4
allele num: 15892
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-7C>G
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.27C>G
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+805G>C
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

1-1244017-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244017
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244017
    reference: chr 1
allele count: 1
allele frequency: 6.292474200855777e-5
allele num: 15892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+805G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-7C>T
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.27C>T
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17837
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

1-1244021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244021
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244021
    reference: chr 1
allele count: 1
allele frequency: 5.64334085778781e-5
allele num: 17720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+801C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.31G>A
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.-3G>A
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17739
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 16817
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25874
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-1244024-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244024
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244024
    reference: chr 1
allele count: 1
allele frequency: 5.271481286241434e-5
allele num: 18970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+798T>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.34A>C
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.1A>C
  hgvsp: ENSP00000368318.5:p.Met1?
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5317
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-1244024-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244024
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244024
    reference: chr 1
allele count: 1
allele frequency: 5.271481286241434e-5
allele num: 18970
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.1A>G
  hgvsp: ENSP00000368318.5:p.Met1?
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+798T>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.34A>G
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16405
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27259
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 146
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5317
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-1244025-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244025
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244025
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 19682
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.2T>C
  hgvsp: ENSP00000368318.5:p.Met1?
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.35T>C
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+797A>G
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: start lost
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30905
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5522
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

1-1244029-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244029
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244029
    reference: chr 1
allele count: 1
allele frequency: 4.832785617630002e-5
allele num: 20692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+793A>G
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.39T>C
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.6T>C
  hgvsp: ENST00000379031.5:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 806
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser2Ser
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-1244031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244031
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244031
    reference: chr 1
allele count: 1
allele frequency: 4.649000464900047e-5
allele num: 21510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+791G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.8C>T
  hgvsp: ENSP00000368318.5:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.41C>T
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31834
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
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  variant carriers: 0
hgvs: p.Ser3Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-1244034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244034
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244034
    reference: chr 1
allele count: 1
allele frequency: 4.360338362256911e-5
allele num: 22934
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.11C>T
  hgvsp: ENSP00000368318.5:p.Ala4Val
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.44C>T
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+788G>A
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32434
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13510
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala4Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

1-1244039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244039
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244039
    reference: chr 1
allele count: 1
allele frequency: 3.883193538365952e-5
allele num: 25752
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.16G>A
  hgvsp: ENSP00000368318.5:p.Ala6Thr
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+783C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.49G>A
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala6Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-1244045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244045
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244045
    reference: chr 1
allele count: 2
allele frequency: 7.069136151562279e-5
allele num: 28292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+777C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.55G>A
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.22G>A
  hgvsp: ENSP00000368318.5:p.Gly8Ser
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10370
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly8Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-1244046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244046
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244046
    reference: chr 1
allele count: 1
allele frequency: 3.487479946990305e-5
allele num: 28674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+776C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.23G>A
  hgvsp: ENSP00000368318.5:p.Gly8Asp
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.56G>A
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 390
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genotype quality: GenotypeQuality
  all individuals: 27
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
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  variant carriers: 0
hgvs: p.Gly8Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

1-1244048-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244048
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244048
    reference: chr 1
allele count: 1
allele frequency: 3.385928082887519e-5
allele num: 29534
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.25T>A
  hgvsp: ENSP00000368318.5:p.Ser9Thr
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.58T>A
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+774A>T
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33460
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 118
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  variant carriers: 0
hgvs: p.Ser9Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

1-1244049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244049
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244049
    reference: chr 1
allele count: 1
allele frequency: 3.342916360232667e-5
allele num: 29914
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.26C>T
  hgvsp: ENSP00000368318.5:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.59C>T
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+773G>A
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser9Phe
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-1244052-T-TGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244052
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244054
    reference: chr 1
allele count: 1
allele frequency: 3.253725515715494e-5
allele num: 30734
alternate allele: TGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+768_168+769dupGC
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.38_39dupGC
  hgvsp: ENSP00000368318.5:p.Tyr14AlafsTer39
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.71_72dupGC
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr14AlafsTer39
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

1-1244052-TGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244052
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244050
    reference: chr 1
allele count: 7
allele frequency: 2.277607861000846e-4
allele num: 30734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.71_72delGC
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+768_168+769delGC
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.38_39delGC
  hgvsp: ENSP00000368318.5:p.Arg13LeufsTer13
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 32905
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9374
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9343
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32576
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg13LeufsTer13
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: TGC
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

1-1244062-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244062
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244062
    reference: chr 1
allele count: 2
allele frequency: 5.702229571762559e-5
allele num: 35074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+760G>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.72C>G
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.39C>G
  hgvsp: ENST00000379031.5:c.39C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10201
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33226
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8540
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg13Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

1-1244062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244062
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244062
    reference: chr 1
allele count: 15
allele frequency: 4.27667217882192e-4
allele num: 35074
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.39C>T
  hgvsp: ENST00000379031.5:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.72C>T
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+760G>A
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32494
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10201
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10347
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8540
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg13Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-1244064-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244064
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244064
    reference: chr 1
allele count: 1
allele frequency: 2.81785392245266e-5
allele num: 35488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+758T>C
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.74A>G
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.41A>G
  hgvsp: ENSP00000368318.5:p.Tyr14Cys
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 32512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8398
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr14Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-1244071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244071
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244071
    reference: chr 1
allele count: 1
allele frequency: 2.74830978947947e-5
allele num: 36386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.81G>A
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+751C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.48G>A
  hgvsp: ENST00000379031.5:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8337
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val16Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-1244074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244074
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244074
    reference: chr 1
allele count: 4
allele frequency: 1.081139521055192e-4
allele num: 36998
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.51C>T
  hgvsp: ENST00000379031.5:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.84C>T
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+748G>A
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10439
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 259
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
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genotype quality: GenotypeQuality
  all individuals: 33814
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1081
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 8220
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 301
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 177
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genotype quality: GenotypeQuality
  all individuals: 299
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genotype quality: GenotypeQuality
  all individuals: 10723
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr17Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

1-1244083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244083
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244083
    reference: chr 1
allele count: 3
allele frequency: 8.157937673356176e-5
allele num: 36774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+739G>A
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.60C>T
  hgvsp: ENST00000379031.5:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.93C>T
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33433
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9194
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 650
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8921
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr20Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

1-1244087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244087
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244087
    reference: chr 1
allele count: 5
allele frequency: 1.355821899235317e-4
allele num: 36878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169972
  ensembl transcript: ENST00000470520
  gene symbol: PUSL1
  hgvsc: ENST00000470520.1:n.97G>A
  variant of: http://identifiers.org/hgnc/26914
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+735C>T
  variant of: http://identifiers.org/hgnc/16754
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169972
  ensembl protein: ENSP00000368318
  ensembl transcript: ENST00000379031
  gene symbol: PUSL1
  hgvsc: ENST00000379031.5:c.64G>A
  hgvsp: ENSP00000368318.5:p.Gly22Ser
  variant of: http://identifiers.org/hgnc/26914
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly22Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

1-1244089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1244089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1244089
    reference: chr 1
allele count: 1
allele frequency: 2.725984080252971e-5
allele num: 36684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131584
  ensembl transcript: ENST00000472541
  gene symbol: ACAP3
  hgvsc: ENST00000472541.1:n.168+733G>A
  variant of: http://identifiers.org/hgnc/16754
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Gly22Gly
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4145
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 610
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 538
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.31578947368421e-2
allele num: 76
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2136
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.49e-2

DP
type: SiteQuality
SIO_000300: 4.82629e5

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.364e1

FS
type: SiteQuality
SIO_000300: 1.762e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.692e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.298e0

FS
type: SiteQuality
SIO_000300: 1.954e0

VQSLOD
type: SiteQuality
SIO_000300: -2.956e0

QD
type: SiteQuality
SIO_000300: 7.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.41e-2

MQ
type: SiteQuality
SIO_000300: 5.862e1

DP
type: SiteQuality
SIO_000300: 4.81796e5

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 555
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4143
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.210067763794773e-4
allele num: 8264
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.405e0

MQ
type: SiteQuality
SIO_000300: 5.704e1

FS
type: SiteQuality
SIO_000300: 8.683999999999999e0

DP
type: SiteQuality
SIO_000300: 4.81729e5

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.37e-2

QD
type: SiteQuality
SIO_000300: 8.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e-1

GenotypeQuality
all individuals: 1886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 538
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

DP
type: SiteQuality
SIO_000300: 4.81473e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.493e-1

FS
type: SiteQuality
SIO_000300: 2.544e0

QD
type: SiteQuality
SIO_000300: 7.79e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

GenotypeQuality
all individuals: 2274
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 551
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.527167045741723e-4
allele num: 7914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.471e0

VQSLOD
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

DP
type: SiteQuality
SIO_000300: 4.80055e5

MQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 1.015e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.42e-2

GenotypeQuality
all individuals: 550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.377e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

FS
type: SiteQuality
SIO_000300: 6.069e0

DP
type: SiteQuality
SIO_000300: 4.7927e5

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2395
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7002
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.748251748251748e-3
allele num: 572
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.819e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.753e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.05e-2

DP
type: SiteQuality
SIO_000300: 1.43431e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.754385964912281e-3
allele num: 570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.385e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.552e1

DP
type: SiteQuality
SIO_000300: 1.46237e5

MQRankSum
type: SiteQuality
SIO_000300: -1.813e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.85e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

QD
type: SiteQuality
SIO_000300: 1.764e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.867e0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 603
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.407261469180974e-4
allele num: 7106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.89e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.593e0

FS
type: SiteQuality
SIO_000300: 2.112e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 1.51377e5

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.739e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

QD
type: SiteQuality
SIO_000300: 1.41e1

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 633
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.754385964912281e-3
allele num: 570
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.68e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.646e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.49e-1

MQ
type: SiteQuality
SIO_000300: 5.521e1

MQRankSum
type: SiteQuality
SIO_000300: -1.632e0

DP
type: SiteQuality
SIO_000300: 1.53533e5

QD
type: SiteQuality
SIO_000300: 1.972e1

FS
type: SiteQuality
SIO_000300: 2.515e0

GenotypeQuality
all individuals: 288
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.748251748251748e-3
allele num: 572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3316
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.54885e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.558e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.62e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.759e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.133e0

MQ
type: SiteQuality
SIO_000300: 5.461e1

QD
type: SiteQuality
SIO_000300: 1.764e1

FS
type: SiteQuality
SIO_000300: 7.911e0

VQSLOD
type: SiteQuality
SIO_000300: -4.561e-1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3625
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.686340640809443e-3
allele num: 3558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.032e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.168e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.452e1

DP
type: SiteQuality
SIO_000300: 1.70598e5

GenotypeQuality
all individuals: 2105
bin: 7.5e0
variant carriers: 24

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 7

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 225
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 144
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1990
bin: 9.75e1
variant carriers: 1504

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 3

South Asian
type: Population
allele count: 1442
allele frequency: 1.89238845144357e-1
allele num: 7620
num of homozygotes: 143

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 9.454949944382647e-3
allele num: 3596
num of homozygotes: 0

Other
type: Population
allele count: 14
allele frequency: 1.060606060606061e-1
allele num: 132
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.5e-1
allele num: 4
num of homozygotes: 0

African
type: Population
allele count: 77
allele frequency: 1.332179930795848e-1
allele num: 578
num of homozygotes: 7

Latino
type: Population
allele count: 13
allele frequency: 6.914893617021277e-2
allele num: 188
num of homozygotes: 2

East Asian
type: Population
allele count: 114
allele frequency: 5.757575757575758e-1
allele num: 198
num of homozygotes: 33

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-2

QD
type: SiteQuality
SIO_000300: 1.372e1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

FS
type: SiteQuality
SIO_000300: 1.992e0

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.037e0

DP
type: SiteQuality
SIO_000300: 2.36527e5

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 7.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.736111111111111e-3
allele num: 576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3602
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.657e0

VQSLOD
type: SiteQuality
SIO_000300: -5.158e-1

FS
type: SiteQuality
SIO_000300: 2.707e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.466e0

QD
type: SiteQuality
SIO_000300: 1.83e1

MQRankSum
type: SiteQuality
SIO_000300: 6.54e-1

DP
type: SiteQuality
SIO_000300: 1.82619e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 5.578e1

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.48e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 1.83087e5

QD
type: SiteQuality
SIO_000300: 1.043e1

VQSLOD
type: SiteQuality
SIO_000300: -3.644e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 2.124e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 788
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2460
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.712328767123288e-3
allele num: 584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3584
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.630194634402946e-4
allele num: 7604
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.668e-1

FS
type: SiteQuality
SIO_000300: 9.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.71e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.652e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.78893e5

QD
type: SiteQuality
SIO_000300: 1.256e1

GenotypeQuality
all individuals: 87
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.317175974710221e-4
allele num: 7592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3560
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.195e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.81e-2

DP
type: SiteQuality
SIO_000300: 1.77735e5

VQSLOD
type: SiteQuality
SIO_000300: -7.459e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 5.904e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2526
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 726
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.320655044902272e-4
allele num: 7572
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.712328767123288e-3
allele num: 584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3562
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.77015e5

QD
type: SiteQuality
SIO_000300: 1.72e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.06e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.319609395618897e-4
allele num: 7578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.817e0

VQSLOD
type: SiteQuality
SIO_000300: -4.819e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.185e0

MQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.14e-2

QD
type: SiteQuality
SIO_000300: 1.205e1

DP
type: SiteQuality
SIO_000300: 1.76742e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
all individuals: 1362
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2180
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 7.575757575757576e-3
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.310249307479224e-4
allele num: 3610
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.06e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

FS
type: SiteQuality
SIO_000300: 7.92e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.066e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.447e0

VQSLOD
type: SiteQuality
SIO_000300: -1.174e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

DP
type: SiteQuality
SIO_000300: 2.26504e5

GenotypeQuality
all individuals: 538
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.261773217574323e-4
allele num: 7602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.28753e5

QD
type: SiteQuality
SIO_000300: 1.26e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.078e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.56e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2200
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3616
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.626050420168067e-4
allele num: 7616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.328e0

FS
type: SiteQuality
SIO_000300: 7.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.647e0

QD
type: SiteQuality
SIO_000300: 3.19e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.88e-2

DP
type: SiteQuality
SIO_000300: 2.30381e5

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2206
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3618
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.443948542924652e-3
allele num: 7618
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.88e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

FS
type: SiteQuality
SIO_000300: 1.253e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: -2.904e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 2.3089e5

GenotypeQuality
all individuals: 80
bin: 7.75e1
variant carriers: 25

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 26

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 46

GenotypeQuality
all individuals: 178
bin: 6.25e1
variant carriers: 28

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 30

GenotypeQuality
all individuals: 238
bin: 1.75e1
variant carriers: 234

GenotypeQuality
all individuals: 75
bin: 8.25e1
variant carriers: 34

European (Non-Finnish)
type: Population
allele count: 3326
allele frequency: 9.102353585112206e-1
allele num: 3654
num of homozygotes: 1515

Other
type: Population
allele count: 98
allele frequency: 7.424242424242424e-1
allele num: 132
num of homozygotes: 36

South Asian
type: Population
allele count: 5112
allele frequency: 6.713947990543735e-1
allele num: 7614
num of homozygotes: 1720

African
type: Population
allele count: 187
allele frequency: 3.351254480286738e-1
allele num: 558
num of homozygotes: 34

European (Finnish)
type: Population
allele count: 15
allele frequency: 9.375e-1
allele num: 16
num of homozygotes: 7

Latino
type: Population
allele count: 143
allele frequency: 7.771739130434783e-1
allele num: 184
num of homozygotes: 58

East Asian
type: Population
allele count: 55
allele frequency: 2.75e-1
allele num: 200
num of homozygotes: 11

VQSLOD
type: SiteQuality
SIO_000300: 1.456e1

QD
type: SiteQuality
SIO_000300: 2.673e1

DP
type: SiteQuality
SIO_000300: 3.89806e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 3219
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 389
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1811
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

DP
type: SiteQuality
SIO_000300: 2.4103e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.208e0

FS
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.17e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.018e0

QD
type: SiteQuality
SIO_000300: 9.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

GenotypeQuality
all individuals: 310
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3192
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.773155851358847e-4
allele num: 3606
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.259e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.17e-2

MQ
type: SiteQuality
SIO_000300: 5.846e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.613e0

VQSLOD
type: SiteQuality
SIO_000300: -3.49e0

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

DP
type: SiteQuality
SIO_000300: 2.40594e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.251e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.23e0

GenotypeQuality
all individuals: 2890
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.312680493567866e-4
allele num: 7618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 8.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.395e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.97e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.432e0

QD
type: SiteQuality
SIO_000300: 1.063e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 2.39215e5

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

GenotypeQuality
all individuals: 2767
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.313025210084034e-4
allele num: 7616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.93e-2

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.558e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.38628e5

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
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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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.313025210084034e-4
allele num: 7616
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3600
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.528e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.96e-1

DP
type: SiteQuality
SIO_000300: 2.37942e5

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.83e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 2.626050420168067e-4
allele num: 7616
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 560
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European (Finnish)
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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
allele num: 3600
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 2.37961e5

VQSLOD
type: SiteQuality
SIO_000300: -4.424e-1

ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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SIO_000300: 1.013e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.89e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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: 0.0e0
allele num: 3602
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
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allele frequency: 1.313025210084034e-4
allele num: 7616
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.88e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.072e0

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.37934e5

VQSLOD
type: SiteQuality
SIO_000300: -4.651e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.156e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 556
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East Asian
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allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3600
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 2
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Other
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allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
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allele frequency: 1.313370107696349e-4
allele num: 7614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.19e-2

DP
type: SiteQuality
SIO_000300: 2.36097e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.71e-1

FS
type: SiteQuality
SIO_000300: 4.059e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.011e0

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
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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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variant carriers: 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

European (Non-Finnish)
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allele frequency: 2.780867630700779e-4
allele num: 3596
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 184
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East Asian
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allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.34785e5

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e0

InbreedingCoeff
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SIO_000300: -3.82e-2

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.043e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3582
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 198
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European (Finnish)
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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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African
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allele frequency: 1.798561151079137e-3
allele num: 556
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Other
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allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.69e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 2.635740643120717e-4
allele num: 7588
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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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 frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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MQRankSum
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DP
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ReadPosRankSum
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FS
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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: 0

Latino
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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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East Asian
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European (Finnish)
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allele frequency: NaN
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European (Non-Finnish)
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Other
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African
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
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DP
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South Asian
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East Asian
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Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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Other
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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MQ
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DP
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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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Latino
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Other
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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QD
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FS
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DP
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VQSLOD
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MQ
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East Asian
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Latino
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Other
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South Asian
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African
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European (Finnish)
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ClippingRankSum
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
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VQSLOD
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QD
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MQ
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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African
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.77e-2

East Asian
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allele frequency: 0.0e0
allele num: 266
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

Other
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allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2478
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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SIO_000300: -6.75e-2

FS
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

Latino
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allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 552
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.07e0

FS
type: SiteQuality
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DP
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InbreedingCoeff
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SIO_000300: -6.320000000000001e-2

MQ
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ClippingRankSum
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MQRankSum
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QD
type: SiteQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 86
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5404
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2868
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -6.23e-2

VQSLOD
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 2.82901e5

QD
type: SiteQuality
SIO_000300: 7.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

African
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allele count: 31
allele frequency: 4.920634920634921e-2
allele num: 630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3036
num of homozygotes: 0

South Asian
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allele frequency: 1.801152737752161e-4
allele num: 5552
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.42e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.99e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 2.92746e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele frequency: 1.340482573726542e-3
allele num: 746
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3664
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 406
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Other
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allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

VQSLOD
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SIO_000300: -1.13e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 1.963e0

DP
type: SiteQuality
SIO_000300: 3.31904e5

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.36e-2

QD
type: SiteQuality
SIO_000300: 1.377e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

African
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allele frequency: 1.312335958005249e-3
allele num: 762
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3760
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.37875e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.25e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.481e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

Other
type: Population
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allele frequency: 8.064516129032258e-3
allele num: 124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

Latino
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allele frequency: 3.333333333333334e-3
allele num: 300
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African
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allele count: 20
allele frequency: 2.188183807439825e-2
allele num: 914
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European (Non-Finnish)
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allele frequency: 2.257336343115124e-4
allele num: 4430
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South Asian
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East Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.79e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 3.68979e5

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7044
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4470
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.72e-2

VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7322
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

Other
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East Asian
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African
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allele frequency: 0.0e0
allele num: 1016
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 5308
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Latino
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allele frequency: 0.0e0
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FS
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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DP
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GenotypeQuality
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bin: 8.25e1
variant carriers: 1

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 1.392405063291139e-2
allele num: 790
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African
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele num: 5976
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Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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South Asian
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Other
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FS
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MQ
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MQRankSum
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DP
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QD
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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African
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allele frequency: 9.84251968503937e-4
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South Asian
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allele frequency: 2.662406815761449e-4
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 5.221023320570832e-4
allele num: 5746
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Other
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allele frequency: 0.0e0
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Latino
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allele num: 550
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DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

QD
type: SiteQuality
SIO_000300: 1.015e1

DP
type: SiteQuality
SIO_000300: 4.31349e5

MQ
type: SiteQuality
SIO_000300: 5.844e1

FS
type: SiteQuality
SIO_000300: 4.053e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.71e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.197e0

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.34517083669626e-4
allele num: 7434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7932
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.099e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 4.48376e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.04e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

VQSLOD
type: SiteQuality
SIO_000300: -6.107e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1370
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.34517083669626e-4
allele num: 7434
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.04e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.48376e5

FS
type: SiteQuality
SIO_000300: 9.099e0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.107e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1150
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 4.52474e5

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.24e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 6.459948320413437e-4
allele num: 1548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.14e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.136e0

DP
type: SiteQuality
SIO_000300: 4.68251e5

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -6.165e-1

QD
type: SiteQuality
SIO_000300: 7.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 7.363770250368188e-4
allele num: 1358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1002
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.887e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 4.77415e5

QD
type: SiteQuality
SIO_000300: 5.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.037990450487856e-4
allele num: 9634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.99e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.686e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.92605e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.82e-2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 4.766444232602478e-4
allele num: 2098
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.23e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 9.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.179e0

DP
type: SiteQuality
SIO_000300: 5.23001e5

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.575795776867318e-4
allele num: 12692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8900
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1542
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.24e-2

DP
type: SiteQuality
SIO_000300: 5.46539e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 3.7e0

FS
type: SiteQuality
SIO_000300: 7.256e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.406e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1562
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8916
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 7.733952049497293e-5
allele num: 12930
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 224
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 2478
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.607e0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-2

DP
type: SiteQuality
SIO_000300: 5.51001e5

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 2592
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Other
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1646
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 7.472724555372888e-5
allele num: 13382
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 8982
num of homozygotes: 0

ReadPosRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -2.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 5.131e0

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 2646
num of homozygotes: 0

East Asian
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allele frequency: 4.512635379061372e-4
allele num: 2216
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South Asian
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allele frequency: 0.0e0
allele num: 9014
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1682
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13604
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.62948e5

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
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num of homozygotes: 0

South Asian
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Other
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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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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.107320540156361e-5
allele num: 14070
num of homozygotes: 0

East Asian
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allele num: 2318
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MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.35e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.78758e5

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 2758
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.945525291828794e-3
allele num: 514
num of homozygotes: 0

Other
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South Asian
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num of homozygotes: 0

East Asian
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Latino
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allele frequency: 5.636978579481398e-4
allele num: 1774
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European (Non-Finnish)
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allele frequency: 3.55366027007818e-4
allele num: 14070
num of homozygotes: 0

FS
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.06e-2

MQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.200480192076831e-4
allele num: 16660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2720
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.093e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

DP
type: SiteQuality
SIO_000300: 6.03685e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

QD
type: SiteQuality
SIO_000300: 8.74e0

GenotypeQuality
all individuals: 1320
bin: 1.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2720
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.686035613870666e-4
allele num: 2134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 7.202881152460984e-4
allele num: 16660
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.127206977238885e-4
allele num: 9402
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.093e-1

DP
type: SiteQuality
SIO_000300: 6.03685e5

FS
type: SiteQuality
SIO_000300: 4.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

QD
type: SiteQuality
SIO_000300: 8.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.922065616487031e-5
allele num: 16886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2774
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

DP
type: SiteQuality
SIO_000300: 6.07157e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

VQSLOD
type: SiteQuality
SIO_000300: -3.325e0

QD
type: SiteQuality
SIO_000300: 3.7e0

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.743165632896853e-5
allele num: 17412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 7.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

VQSLOD
type: SiteQuality
SIO_000300: -1.798e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 6.11752e5

GenotypeQuality
all individuals: 63
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 2.249212775528565e-4
allele num: 17784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9516
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.801e-1

DP
type: SiteQuality
SIO_000300: 6.16528e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.464e0

FS
type: SiteQuality
SIO_000300: 2.863e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

QD
type: SiteQuality
SIO_000300: 1.078e1

GenotypeQuality
all individuals: 1227
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.170577045022194e-4
allele num: 9462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

FS
type: SiteQuality
SIO_000300: 6.98e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.98e-2

DP
type: SiteQuality
SIO_000300: 6.02385e5

GenotypeQuality
all individuals: 853
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2290
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.11595429538722e-4
allele num: 9452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.69434090138936e-4
allele num: 17706
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.024e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.05e-2

FS
type: SiteQuality
SIO_000300: 6.75e-1

DP
type: SiteQuality
SIO_000300: 5.97442e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.72e-1