3-99514086-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514086
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514086
    reference: chr 3
allele count: 1
allele frequency: 8.790590551873274e-6
allele num: 113758
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1341G>T
  hgvsp: ENST00000261037.3:c.1341G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1341G>T
  hgvsp: ENST00000273342.4:c.1341G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 7.5e0
  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
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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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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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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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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
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: 777
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly447Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5922
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum

3-99514094-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514094
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514094
    reference: chr 3
allele count: 1
allele frequency: 8.923631561100105e-6
allele num: 112062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1349G>A
  hgvsp: ENSP00000273342.3:p.Gly450Asp
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1349G>A
  hgvsp: ENSP00000261037.3:p.Gly450Asp
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  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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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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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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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: 14
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly450Asp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 61918
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-99514106-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514106
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514106
    reference: chr 3
allele count: 1
allele frequency: 9.149298248824316e-6
allele num: 109298
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1361T>G
  hgvsp: ENSP00000261037.3:p.Leu454Trp
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1361T>G
  hgvsp: ENSP00000273342.3:p.Leu454Trp
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
hgvs: p.Leu454Trp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10202
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

3-99514107-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514107
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514107
    reference: chr 3
allele count: 1
allele frequency: 9.18526683200147e-6
allele num: 108870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1362G>T
  hgvsp: ENSP00000273342.3:p.Leu454Phe
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1362G>T
  hgvsp: ENSP00000261037.3:p.Leu454Phe
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 3365
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hgvs: p.Leu454Phe
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10144
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

3-99514118-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514118
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514118
    reference: chr 3
allele count: 3
allele frequency: 2.878581435068798e-5
allele num: 104218
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1373T>C
  hgvsp: ENSP00000261037.3:p.Ile458Thr
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1373T>C
  hgvsp: ENSP00000273342.3:p.Ile458Thr
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 1.25e1
  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 depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile458Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7346
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

3-99514122-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514122
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514122
    reference: chr 3
allele count: 6
allele frequency: 5.924404597337968e-5
allele num: 101276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1377G>T
  hgvsp: ENST00000273342.4:c.1377G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1377G>T
  hgvsp: ENST00000261037.3:c.1377G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9482
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13302
  bin: 2.75e1
  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 quality: GenotypeQuality
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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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: 2626
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 381
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genotype quality: GenotypeQuality
  all individuals: 730
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly459Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4996
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

3-99514125-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514125
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514125
    reference: chr 3
allele count: 1
allele frequency: 1.005611311116027e-5
allele num: 99442
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1380C>G
  hgvsp: ENST00000261037.3:c.1380C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1380C>G
  hgvsp: ENST00000273342.4:c.1380C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
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genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  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: 9566
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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: 7.5e0
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  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
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31899
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
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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: 13
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  variant carriers: 0
hgvs: p.Pro460Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.432254368375824e-4
  allele num: 6982
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

3-99514134-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514134
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514134
    reference: chr 3
allele count: 10
allele frequency: 1.082532259461332e-4
allele num: 92376
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1389A>G
  hgvsp: ENST00000261037.3:c.1389A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1389A>G
  hgvsp: ENST00000273342.4:c.1389A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13522
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19563
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 3
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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  bin: 3.75e1
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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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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: 1132
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu463Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4400
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-99514135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514135
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514135
    reference: chr 3
allele count: 1
allele frequency: 1.084222395697805e-5
allele num: 92232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1390G>A
  hgvsp: ENSP00000273342.3:p.Ala464Thr
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1390G>A
  hgvsp: ENSP00000261037.3:p.Ala464Thr
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13562
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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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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 845
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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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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genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala464Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 662
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

3-99514136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514136
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514136
    reference: chr 3
allele count: 2
allele frequency: 2.18402603359032e-5
allele num: 91574
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1391C>T
  hgvsp: ENSP00000261037.3:p.Ala464Val
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1391C>T
  hgvsp: ENSP00000273342.3:p.Ala464Val
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
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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 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
  all individuals: 51
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genotype quality: GenotypeQuality
  all individuals: 1329
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genotype quality: GenotypeQuality
  all individuals: 833
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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: 874
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  variant carriers: 0
hgvs: p.Ala464Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13408
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-99514140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514140
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514140
    reference: chr 3
allele count: 1
allele frequency: 1.139419351898273e-5
allele num: 87764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1395G>A
  hgvsp: ENST00000273342.4:c.1395G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1395G>A
  hgvsp: ENST00000261037.3:c.1395G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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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 depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 546
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genotype quality: GenotypeQuality
  all individuals: 818
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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: 1361
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  variant carriers: 0
hgvs: p.Gly465Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13120
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/3-99514141-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514141
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514141
    reference: chr 3
allele count: 1
allele frequency: 1.153163126455868e-5
allele num: 86718
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1396C>A
  hgvsp: ENSP00000261037.3:p.Gln466Lys
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1396C>A
  hgvsp: ENSP00000273342.3:p.Gln466Lys
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  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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  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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  bin: 8.25e1
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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
  all individuals: 546
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  variant carriers: 0
hgvs: p.Gln466Lys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 628
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

3-99514149-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514149
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514149
    reference: chr 3
allele count: 3
allele frequency: 3.668378576669112e-5
allele num: 81780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1404T>C
  hgvsp: ENST00000273342.4:c.1404T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1404T>C
  hgvsp: ENST00000261037.3:c.1404T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3183
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17920
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28150
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly468Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 3
  allele frequency: 3.973509933774834e-4
  allele num: 7550
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

3-99514168-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514168
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514168
    reference: chr 3
allele count: 1
allele frequency: 1.481657085284182e-5
allele num: 67492
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1423G>T
  hgvsp: ENSP00000261037.3:p.Val475Phe
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1423G>T
  hgvsp: ENSP00000273342.3:p.Val475Phe
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22736
  bin: 7.5e0
  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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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
  all individuals: 1197
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hgvs: p.Val475Phe
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5046
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

3-99514169-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514169
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514169
    reference: chr 3
allele count: 1
allele frequency: 1.520218911523259e-5
allele num: 65780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1424T>C
  hgvsp: ENSP00000273342.3:p.Val475Ala
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1424T>C
  hgvsp: ENSP00000261037.3:p.Val475Ala
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: p.Val475Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6242
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

3-99514172-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514172
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514172
    reference: chr 3
allele count: 1
allele frequency: 1.576839383140433e-5
allele num: 63418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1427C>T
  hgvsp: ENSP00000273342.3:p.Pro476Leu
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1427C>T
  hgvsp: ENSP00000261037.3:p.Pro476Leu
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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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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hgvs: p.Pro476Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2686
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
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site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

3-99514175-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514175
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514175
    reference: chr 3
allele count: 1
allele frequency: 1.619275859835481e-5
allele num: 61756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1430G>T
  hgvsp: ENSP00000273342.3:p.Gly477Val
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1430G>T
  hgvsp: ENSP00000261037.3:p.Gly477Val
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  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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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33702
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly477Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.985965959988056e-5
  allele num: 33490
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

3-99514182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514182
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514182
    reference: chr 3
allele count: 131
allele frequency: 2.31219994351878e-3
allele num: 56656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1437C>T
  hgvsp: ENST00000273342.4:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1437C>T
  hgvsp: ENST00000261037.3:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
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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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  variant carriers: 9
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 19
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: 41
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 47
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
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genotype quality: GenotypeQuality
  all individuals: 33465
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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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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.75e1
  variant carriers: 127
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: 9514
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu479Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 410
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

3-99514208-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514208
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514208
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 38606
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1463C>G
  hgvsp: ENSP00000261037.3:p.Pro488Arg
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1463C>G
  hgvsp: ENSP00000273342.3:p.Pro488Arg
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10967
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  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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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
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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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  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
  all individuals: 10
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  variant carriers: 1
hgvs: p.Pro488Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2082
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-99514227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514227
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514227
    reference: chr 3
allele count: 1
allele frequency: 3.646973012399708e-5
allele num: 27420
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1482G>A
  hgvsp: ENST00000261037.3:c.1482G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1482G>A
  hgvsp: ENST00000273342.4:c.1482G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
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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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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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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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hgvs: p.Gln494Gln
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 224
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

3-99514230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514230
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514230
    reference: chr 3
allele count: 1
allele frequency: 3.744757339724386e-5
allele num: 26704
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1485C>T
  hgvsp: ENST00000261037.3:c.1485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1485C>T
  hgvsp: ENST00000273342.4:c.1485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
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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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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4847
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly495Gly
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1368
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/3-99514231-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514231
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514231
    reference: chr 3
allele count: 1
allele frequency: 3.759963904346518e-5
allele num: 26596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1486C>A
  hgvsp: ENSP00000273342.3:p.Pro496Thr
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1486C>A
  hgvsp: ENSP00000261037.3:p.Pro496Thr
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 1.25e1
  variant carriers: 1
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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 54
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genotype quality: GenotypeQuality
  all individuals: 20150
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23991
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro496Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 7.870297497245396e-5
  allele num: 12706
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

3-99514231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514231
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514231
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 26596
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1486C>T
  hgvsp: ENSP00000261037.3:p.Pro496Ser
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1486C>T
  hgvsp: ENSP00000273342.3:p.Pro496Ser
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
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: 7099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21421
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23991
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro496Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 708
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-99514236-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514236
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514236
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 23062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1491A>G
  hgvsp: ENST00000273342.4:c.1491A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1491A>G
  hgvsp: ENST00000261037.3:c.1491A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
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: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20574
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
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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  bin: 2.5e0
  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: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25626
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 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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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 793
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro497Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 204
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/3-99514242-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514242
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514242
    reference: chr 3
allele count: 2
allele frequency: 9.38350380031904e-5
allele num: 21314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1497C>A
  hgvsp: ENST00000273342.4:c.1497C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1497C>A
  hgvsp: ENST00000261037.3:c.1497C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
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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: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 74
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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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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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: 323
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile499Ile
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2092
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

3-99514251-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514251
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514251
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 18670
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1506T>A
  hgvsp: ENST00000261037.3:c.1506T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1506T>A
  hgvsp: ENST00000273342.4:c.1506T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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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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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  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: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile502Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 602
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

3-99514253-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514253
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514253
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 18132
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1508G>C
  hgvsp: ENSP00000261037.3:p.Gly503Ala
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1508G>C
  hgvsp: ENSP00000273342.3:p.Gly503Ala
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  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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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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genotype depth: GenotypeDepth
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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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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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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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: 1010
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly503Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8088
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

3-99514255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514255
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514255
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 16746
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1510G>A
  hgvsp: ENSP00000261037.3:p.Gly504Ser
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1510G>A
  hgvsp: ENSP00000273342.3:p.Gly504Ser
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  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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  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 1.75e1
  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: 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
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Gly504Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6174
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

3-99514269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514269
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514269
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 14992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1524C>T
  hgvsp: ENST00000273342.4:c.1524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1524C>T
  hgvsp: ENST00000261037.3:c.1524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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
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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
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro508Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 426
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

3-99514308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514308
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514308
    reference: chr 3
allele count: 1
allele frequency: 6.674676278200507e-5
allele num: 14982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1563G>A
  hgvsp: ENST00000273342.4:c.1563G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1563G>A
  hgvsp: ENST00000261037.3:c.1563G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
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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: 9
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  variant carriers: 1
hgvs: p.Pro521Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6678
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/3-99514321-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514321
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514321
    reference: chr 3
allele count: 1
allele frequency: 5.600985773496135e-5
allele num: 17854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1576C>A
  hgvsp: ENSP00000273342.3:p.Pro526Thr
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1576C>A
  hgvsp: ENSP00000261037.3:p.Pro526Thr
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 3
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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: 48
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro526Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.201634222542658e-4
  allele num: 8322
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
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site quality: InbreedingCoeff

3-99514338-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514338
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514338
    reference: chr 3
allele count: 1
allele frequency: 4.000960230455309e-5
allele num: 24994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1593T>G
  hgvsp: ENST00000273342.4:c.1593T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1593T>G
  hgvsp: ENST00000261037.3:c.1593T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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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
  all individuals: 214
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hgvs: p.Gly531Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 228
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

3-99514340-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514340
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514340
    reference: chr 3
allele count: 1
allele frequency: 3.790175864160097e-5
allele num: 26384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1595T>C
  hgvsp: ENSP00000273342.3:p.Ile532Thr
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1595T>C
  hgvsp: ENSP00000261037.3:p.Ile532Thr
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3
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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
  all individuals: 1600
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hgvs: p.Ile532Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2314
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/3-99514348-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514348
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514348
    reference: chr 3
allele count: 1
allele frequency: 3.219989696032973e-5
allele num: 31056
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1603C>A
  hgvsp: ENSP00000261037.3:p.Pro535Thr
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1603C>A
  hgvsp: ENSP00000273342.3:p.Pro535Thr
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8367
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro535Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 6.45244547683572e-5
  allele num: 15498
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

3-99514350-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514350
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514350
    reference: chr 3
allele count: 296
allele frequency: 9.037064175367895e-3
allele num: 32754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1605C>T
  hgvsp: ENST00000273342.4:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1605C>T
  hgvsp: ENST00000261037.3:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 1.25e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35388
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genotype depth: GenotypeDepth
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  variant carriers: 14
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  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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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 220
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  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
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  variant carriers: 7
genotype quality: GenotypeQuality
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  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 304
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  variant carriers: 297
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 92
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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: 233
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genotype quality: GenotypeQuality
  all individuals: 521
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  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 35370
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.75e1
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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
  all individuals: 102
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  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 35
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  variant carriers: 10
hgvs: p.Pro535Pro
num of homozygotes: 3
population: South Asian
  type: Population
  allele count: 19
  allele frequency: 2.301356589147287e-3
  allele num: 8256
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

3-99514362-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514362
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514362
    reference: chr 3
allele count: 41
allele frequency: 1.047200653861872e-3
allele num: 39152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1617A>G
  hgvsp: ENST00000273342.4:c.1617A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1617A>G
  hgvsp: ENST00000261037.3:c.1617A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
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  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1688
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  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
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genotype depth: GenotypeDepth
  all individuals: 5439
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9415
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  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32493
  bin: 7.5e0
  variant carriers: 5
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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  variant carriers: 11
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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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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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7663
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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: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1763
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genotype quality: GenotypeQuality
  all individuals: 528
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 5904
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genotype quality: GenotypeQuality
  all individuals: 471
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genotype quality: GenotypeQuality
  all individuals: 496
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genotype quality: GenotypeQuality
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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: 409
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  variant carriers: 2
hgvs: p.Gly539Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 6
  allele frequency: 1.909611712285169e-3
  allele num: 3142
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-99514366-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514366
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514366
    reference: chr 3
allele count: 1
allele frequency: 2.192790106131041e-5
allele num: 45604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1621C>A
  hgvsp: ENSP00000273342.3:p.His541Asn
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1621C>A
  hgvsp: ENSP00000261037.3:p.His541Asn
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
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: 8241
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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: 242
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 10437
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
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genotype quality: GenotypeQuality
  all individuals: 1653
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genotype quality: GenotypeQuality
  all individuals: 9
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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: 539
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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: 65
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genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
hgvs: p.His541Asn
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3812
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-99514368-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514368
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514368
    reference: chr 3
allele count: 4
allele frequency: 8.343763037129746e-5
allele num: 47940
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1623T>C
  hgvsp: ENST00000261037.3:c.1623T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1623T>C
  hgvsp: ENST00000273342.4:c.1623T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
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genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10901
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 30025
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  variant carriers: 2
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
  all individuals: 3868
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 24
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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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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  bin: 2.25e1
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genotype quality: GenotypeQuality
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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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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 960
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His541His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 25318
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

3-99514373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514373
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514373
    reference: chr 3
allele count: 1
allele frequency: 1.726578956455679e-5
allele num: 57918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1628C>T
  hgvsp: ENSP00000273342.3:p.Pro543Leu
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1628C>T
  hgvsp: ENSP00000261037.3:p.Pro543Leu
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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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
hgvs: p.Pro543Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 2.67379679144385e-4
  allele num: 3740
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

3-99514374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514374
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514374
    reference: chr 3
allele count: 3
allele frequency: 5.048465266558966e-5
allele num: 59424
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1629C>T
  hgvsp: ENST00000261037.3:c.1629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1629C>T
  hgvsp: ENST00000273342.4:c.1629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9288
  bin: 2.25e1
  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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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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  variant carriers: 0
hgvs: p.Pro543Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 2.730251183108846e-4
  allele num: 10988
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

3-99514380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514380
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514380
    reference: chr 3
allele count: 12
allele frequency: 1.645052504592438e-4
allele num: 72946
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1635G>A
  hgvsp: ENST00000261037.3:c.1635G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1635G>A
  hgvsp: ENST00000273342.4:c.1635G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15231
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
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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
  all individuals: 16586
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  variant carriers: 0
hgvs: p.Gly545Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5908
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-99514390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514390
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514390
    reference: chr 3
allele count: 1
allele frequency: 1.067030879873663e-5
allele num: 93718
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1645G>A
  hgvsp: ENSP00000261037.3:p.Ala549Thr
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1645G>A
  hgvsp: ENSP00000273342.3:p.Ala549Thr
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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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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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31728
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala549Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4716
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

3-99514391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514391
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514391
    reference: chr 3
allele count: 1
allele frequency: 1.047449460563528e-5
allele num: 95470
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1646C>T
  hgvsp: ENSP00000261037.3:p.Ala549Val
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1646C>T
  hgvsp: ENSP00000273342.3:p.Ala549Val
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
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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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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 945
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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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  bin: 3.75e1
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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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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: 33
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala549Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 52204
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-99514407-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514407
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514407
    reference: chr 3
allele count: 1
allele frequency: 9.155664609694018e-6
allele num: 109222
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1662C>A
  hgvsp: ENST00000261037.3:c.1662C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1662C>A
  hgvsp: ENST00000273342.4:c.1662C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
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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
  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: 9.25e1
  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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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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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 751
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4968
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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: 72
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  variant carriers: 0
hgvs: p.Gly554Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15070
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-99514410-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514410
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514410
    reference: chr 3
allele count: 1
allele frequency: 9.008035167369294e-6
allele num: 111012
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1665G>A
  hgvsp: ENST00000261037.3:c.1665G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1665G>A
  hgvsp: ENST00000273342.4:c.1665G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
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genotype depth: GenotypeDepth
  all individuals: 1745
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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 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: 1021
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln555Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5852
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

3-99514418-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514418
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514418
    reference: chr 3
allele count: 1
allele frequency: 8.809486054583575e-6
allele num: 113514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1673T>C
  hgvsp: ENSP00000273342.3:p.Leu558Pro
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1673T>C
  hgvsp: ENSP00000261037.3:p.Leu558Pro
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu558Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 62340
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

3-99514420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514420
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514420
    reference: chr 3
allele count: 1
allele frequency: 8.788118463836893e-6
allele num: 113790
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1675C>T
  hgvsp: ENSP00000261037.3:p.Pro559Ser
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1675C>T
  hgvsp: ENSP00000273342.3:p.Pro559Ser
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  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: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro559Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9166
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/3-99514422-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514422
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514422
    reference: chr 3
allele count: 1
allele frequency: 8.769622029290538e-6
allele num: 114030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1677A>C
  hgvsp: ENST00000273342.4:c.1677A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1677A>C
  hgvsp: ENST00000261037.3:c.1677A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38046
  bin: 2.25e1
  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: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 494
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genotype quality: GenotypeQuality
  all individuals: 615
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro559Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11254
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-99514428-C-CCCAGGCCCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514428
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514437
    reference: chr 3
allele count: 3
allele frequency: 2.603895427559629e-5
allele num: 115212
alternate allele: CCCAGGCCCT
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsp: ENSP00000261037.3:p.Pro564_Gly566dup
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsp: ENSP00000273342.3:p.Pro564_Gly566dup
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37982
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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: 276
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44201
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 326
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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: 465
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 472
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
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genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 69
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genotype quality: GenotypeQuality
  all individuals: 88
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genotype quality: GenotypeQuality
  all individuals: 1203
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro564_Gly566dup
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6162
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

3-99514429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514429
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514429
    reference: chr 3
allele count: 1
allele frequency: 8.667914846404549e-6
allele num: 115368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1684C>T
  hgvsp: ENSP00000261037.3:p.Pro562Ser
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1684C>T
  hgvsp: ENSP00000273342.3:p.Pro562Ser
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  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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genotype depth: GenotypeDepth
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  bin: 5.25e1
  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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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 667
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.75e1
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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
  all individuals: 856
  bin: 3.25e1
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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
  all individuals: 1214
  bin: 7.25e1
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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
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 478
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro562Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6170
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-99514642-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514642
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514642
    reference: chr 3
allele count: 2
allele frequency: 1.648940555692967e-5
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1897G>T
  hgvsp: ENSP00000261037.3:p.Val633Leu
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1897G>T
  hgvsp: ENSP00000273342.3:p.Val633Leu
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val633Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11572
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

3-99514436-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514436
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514436
    reference: chr 3
allele count: 3
allele frequency: 2.577186742951394e-5
allele num: 116406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1691C>G
  hgvsp: ENSP00000261037.3:p.Pro564Arg
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1691C>G
  hgvsp: ENSP00000273342.3:p.Pro564Arg
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  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: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5955
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro564Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64076
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/3-99514443-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514443
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514443
    reference: chr 3
allele count: 167
allele frequency: 1.421058901615072e-3
allele num: 117518
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1698A>C
  hgvsp: ENST00000273342.4:c.1698A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1698A>C
  hgvsp: ENST00000261037.3:c.1698A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14371
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 38118
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
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genotype quality: GenotypeQuality
  all individuals: 46533
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 62
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genotype quality: GenotypeQuality
  all individuals: 616
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genotype quality: GenotypeQuality
  all individuals: 177
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genotype quality: GenotypeQuality
  all individuals: 434
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genotype quality: GenotypeQuality
  all individuals: 577
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genotype quality: GenotypeQuality
  all individuals: 90
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 6109
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 201
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  variant carriers: 164
genotype quality: GenotypeQuality
  all individuals: 236
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genotype quality: GenotypeQuality
  all individuals: 1250
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly566Gly
num of homozygotes: 1
population: Other
  type: Population
  allele count: 1
  allele frequency: 1.141552511415525e-3
  allele num: 876
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-99514453-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514453
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514453
    reference: chr 3
allele count: 1
allele frequency: 8.450942280064228e-6
allele num: 118330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1708C>A
  hgvsp: ENSP00000273342.3:p.Pro570Thr
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1708C>A
  hgvsp: ENSP00000261037.3:p.Pro570Thr
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38680
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 14891
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 45
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 133
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genotype quality: GenotypeQuality
  all individuals: 1299
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 443
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genotype quality: GenotypeQuality
  all individuals: 6318
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 91
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genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 47516
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 325
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genotype quality: GenotypeQuality
  all individuals: 44
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genotype quality: GenotypeQuality
  all individuals: 985
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genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro570Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8616
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-99514456-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514456
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514456
    reference: chr 3
allele count: 2
allele frequency: 1.686283767832451e-5
allele num: 118604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1711C>T
  hgvsp: ENSP00000273342.3:p.Pro571Ser
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1711C>T
  hgvsp: ENSP00000261037.3:p.Pro571Ser
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
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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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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 7.75e1
  variant carriers: 0
hgvs: p.Pro571Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16090
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

3-99514461-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514461
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514461
    reference: chr 3
allele count: 10
allele frequency: 8.404350091607416e-5
allele num: 118986
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1716T>A
  hgvsp: ENST00000261037.3:c.1716T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1716T>A
  hgvsp: ENST00000273342.4:c.1716T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
hgvs: p.Ala572Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 5
  allele frequency: 7.645961403186837e-5
  allele num: 65394
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
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3-99514468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514468
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514468
    reference: chr 3
allele count: 1
allele frequency: 8.385603595746822e-6
allele num: 119252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1723C>T
  hgvsp: ENSP00000273342.3:p.Pro575Ser
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1723C>T
  hgvsp: ENSP00000261037.3:p.Pro575Ser
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Pro575Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 888
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

3-99514473-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514473
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514473
    reference: chr 3
allele count: 1
allele frequency: 8.367920739054759e-6
allele num: 119504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1728T>C
  hgvsp: ENST00000273342.4:c.1728T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1728T>C
  hgvsp: ENST00000261037.3:c.1728T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Pro576Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8626
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

3-99514483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514483
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514483
    reference: chr 3
allele count: 1
allele frequency: 8.350033400133601e-6
allele num: 119760
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1738C>T
  hgvsp: ENSP00000261037.3:p.Pro580Ser
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1738C>T
  hgvsp: ENSP00000273342.3:p.Pro580Ser
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  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 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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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 8.75e1
  variant carriers: 0
hgvs: p.Pro580Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8628
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

3-99514489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514489
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514489
    reference: chr 3
allele count: 1
allele frequency: 8.336112037345782e-6
allele num: 119960
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1744G>A
  hgvsp: ENSP00000261037.3:p.Gly582Arg
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1744G>A
  hgvsp: ENSP00000273342.3:p.Gly582Arg
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  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 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
  all individuals: 96
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  variant carriers: 0
hgvs: p.Gly582Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10058
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

3-99514493-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514493
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514493
    reference: chr 3
allele count: 1
allele frequency: 8.330001332800213e-6
allele num: 120048
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1748A>G
  hgvsp: ENSP00000261037.3:p.Glu583Gly
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1748A>G
  hgvsp: ENSP00000273342.3:p.Glu583Gly
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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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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hgvs: p.Glu583Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10082
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

3-99514495-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514495
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514495
    reference: chr 3
allele count: 2
allele frequency: 1.665389867768044e-5
allele num: 120092
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1750T>C
  hgvsp: ENSP00000261037.3:p.Tyr584His
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1750T>C
  hgvsp: ENSP00000273342.3:p.Tyr584His
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39267
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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
  all individuals: 339
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hgvs: p.Tyr584His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.034440904263389e-5
  allele num: 65910
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

3-99514504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514504
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514504
    reference: chr 3
allele count: 1
allele frequency: 8.314072398942449e-6
allele num: 120278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1759G>A
  hgvsp: ENSP00000273342.3:p.Asp587Asn
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1759G>A
  hgvsp: ENSP00000261037.3:p.Asp587Asn
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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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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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp587Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8638
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

3-99514516-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514516
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514516
    reference: chr 3
allele count: 1
allele frequency: 8.302475798283047e-6
allele num: 120446
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1771G>C
  hgvsp: ENSP00000261037.3:p.Gly591Arg
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1771G>C
  hgvsp: ENSP00000273342.3:p.Gly591Arg
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3755
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49816
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35
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genotype quality: GenotypeQuality
  all individuals: 638
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 62
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6715
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1047
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genotype quality: GenotypeQuality
  all individuals: 49
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly591Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

3-99514519-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514519
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514519
    reference: chr 3
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1774A>G
  hgvsp: ENSP00000261037.3:p.Ile592Val
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1774A>G
  hgvsp: ENSP00000273342.3:p.Ile592Val
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
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genotype depth: GenotypeDepth
  all individuals: 417
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
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genotype quality: GenotypeQuality
  all individuals: 64
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 339
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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
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 121
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 1414
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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: 49876
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile592Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.512035805007863e-5
  allele num: 66136
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

3-99514520-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514520
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514520
    reference: chr 3
allele count: 11
allele frequency: 9.125752874612155e-5
allele num: 120538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1775T>A
  hgvsp: ENSP00000273342.3:p.Ile592Asn
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1775T>A
  hgvsp: ENSP00000261037.3:p.Ile592Asn
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16197
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genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 416
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 99
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genotype quality: GenotypeQuality
  all individuals: 57
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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: 111
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genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile592Asn
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16496
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

3-99514527-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514527
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514527
    reference: chr 3
allele count: 6
allele frequency: 4.973145016908693e-5
allele num: 120648
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1782C>T
  hgvsp: ENST00000261037.3:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1782C>T
  hgvsp: ENST00000273342.4:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
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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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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: 537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6712
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly594Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.059871530723549e-5
  allele num: 16502
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum

3-99514530-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514530
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514530
    reference: chr 3
allele count: 37
allele frequency: 3.065553125207132e-4
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1785G>A
  hgvsp: ENST00000273342.4:c.1785G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1785G>A
  hgvsp: ENST00000261037.3:c.1785G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16185
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6717
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.75e1
  variant carriers: 37
hgvs: p.Val595Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 33
  allele frequency: 3.220769080616826e-3
  allele num: 10246
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/3-99514533-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514533
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514534
    reference: chr 3
allele count: 7
allele frequency: 5.808453789601208e-5
allele num: 120514
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1795dupC
  hgvsp: ENSP00000273342.3:p.His599ProfsTer6
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1795dupC
  hgvsp: ENSP00000261037.3:p.His599ProfsTer6
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39112
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16124
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49555
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 1
hgvs: p.His599ProfsTer6
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8634
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

3-99514534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514534
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514534
    reference: chr 3
allele count: 2
allele frequency: 1.659255326209597e-5
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1789C>T
  hgvsp: ENSP00000273342.3:p.Pro597Ser
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1789C>T
  hgvsp: ENSP00000261037.3:p.Pro597Ser
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 117
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 339
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genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 105
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genotype quality: GenotypeQuality
  all individuals: 49526
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro597Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11568
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/3-99514535-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514535
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514535
    reference: chr 3
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1790C>A
  hgvsp: ENSP00000273342.3:p.Pro597His
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1790C>A
  hgvsp: ENSP00000261037.3:p.Pro597His
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 365
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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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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  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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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6723
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro597His
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10254
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

3-99514535-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514535
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514535
    reference: chr 3
allele count: 14
allele frequency: 1.159650779450988e-4
allele num: 120726
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1790C>G
  hgvsp: ENSP00000273342.3:p.Pro597Arg
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1790C>G
  hgvsp: ENSP00000261037.3:p.Pro597Arg
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 1
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: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro597Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66250
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-99514536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514536
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514536
    reference: chr 3
allele count: 263
allele frequency: 2.178306387490061e-3
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1791C>T
  hgvsp: ENST00000261037.3:c.1791C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1791C>T
  hgvsp: ENST00000273342.4:c.1791C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38918
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16199
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6700
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.75e1
  variant carriers: 262
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 341
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro597Pro
num of homozygotes: 1
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16508
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

3-99514539-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514539
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514539
    reference: chr 3
allele count: 8
allele frequency: 6.626027034190299e-5
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1794C>G
  hgvsp: ENST00000261037.3:c.1794C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1794C>G
  hgvsp: ENST00000273342.4:c.1794C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16276
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 1
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: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
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 quality: GenotypeQuality
  all individuals: 517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49597
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genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6750
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 111
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 348
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Pro598Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.641548565502938e-5
  allele num: 11572
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-99514540-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514540
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514540
    reference: chr 3
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1795C>G
  hgvsp: ENSP00000273342.3:p.His599Asp
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1795C>G
  hgvsp: ENSP00000261037.3:p.His599Asp
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  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: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1420
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 129
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genotype quality: GenotypeQuality
  all individuals: 59
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genotype quality: GenotypeQuality
  all individuals: 49637
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genotype quality: GenotypeQuality
  all individuals: 6749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His599Asp
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

3-99514542-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514542
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514542
    reference: chr 3
allele count: 1
allele frequency: 8.278693953241936e-6
allele num: 120792
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1797T>C
  hgvsp: ENST00000261037.3:c.1797T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1797T>C
  hgvsp: ENST00000273342.4:c.1797T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
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: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His599His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8638
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

3-99514548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514548
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 99514548
    reference: chr 3
allele count: 7
allele frequency: 5.794414184725924e-5
allele num: 120806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000273342
  ensembl transcript: ENST00000273342
  gene symbol: COL8A1
  hgvsc: ENST00000273342.4:c.1803C>T
  hgvsp: ENST00000273342.4:c.1803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144810
  ensembl protein: ENSP00000261037
  ensembl transcript: ENST00000261037
  gene symbol: COL8A1
  hgvsc: ENST00000261037.3:c.1803C>T
  hgvsp: ENST00000261037.3:c.1803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2215
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49626
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr601Tyr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 7
  allele frequency: 1.055806938159879e-4
  allele num: 66300
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

3-99514549-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99514549
allele count: 3
allele frequency: 2.482744922786633e-5
allele num: 120834
alternate allele: A
canonical: true
consequence: missense
filter: PASS
hgvs: p.Gly602Arg
num of homozygotes: 0
reference allele: G

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62740
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.443298969072165e-5
allele num: 15520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.03e0

FS
type: SiteQuality
SIO_000300: 7.215e0

DP
type: SiteQuality
SIO_000300: 1.337868e6

VQSLOD
type: SiteQuality
SIO_000300: -1.729e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.037e1

MQ
type: SiteQuality
SIO_000300: 5.863e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7954
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.025641025641026e-4
allele num: 9750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15310
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.313712e6

FS
type: SiteQuality
SIO_000300: 4.483e0

VQSLOD
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.471e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.854e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.662225183211193e-5
allele num: 15010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.455e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e0

MQ
type: SiteQuality
SIO_000300: 5.85e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.576e0

FS
type: SiteQuality
SIO_000300: 4.521e0

DP
type: SiteQuality
SIO_000300: 1.272114e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.055743243243243e-4
allele num: 9472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.269876e6

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.222e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.546e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.456977909911155e-5
allele num: 57854
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.895600606812854e-5
allele num: 14502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

FS
type: SiteQuality
SIO_000300: 3.163e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.207657e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56166
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.721935917544253e-4
allele num: 8926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.1571e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.466e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.844e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
SIO_000300: 1.168699e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8860
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.734e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 9.167999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.307e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.641e0

DP
type: SiteQuality
SIO_000300: 1.144894e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 7.41839762611276e-4
allele num: 13480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

DP
type: SiteQuality
SIO_000300: 1.046448e6

QD
type: SiteQuality
SIO_000300: 1.394e1

FS
type: SiteQuality
SIO_000300: 5.286e0

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4386
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.554243083618278e-4
allele num: 6434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51000
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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Latino
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allele count: 0
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allele num: 7952
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MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.965e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.07e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.511e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.04604e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4336
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.208605269518975e-4
allele num: 8274
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.974957538412924e-5
allele num: 50634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
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Latino
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.462e0

FS
type: SiteQuality
SIO_000300: 7.475e0

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

DP
type: SiteQuality
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QD
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SIO_000300: 1.149e1

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4132
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African
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allele frequency: 0.0e0
allele num: 7986
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6056
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7376
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.063387256520304e-5
allele num: 48464
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Other
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

DP
type: SiteQuality
SIO_000300: 9.91807e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7264
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4050
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12968
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47940
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African
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allele num: 7904
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

FS
type: SiteQuality
SIO_000300: 1.568e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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DP
type: SiteQuality
SIO_000300: 9.92149e5

QD
type: SiteQuality
SIO_000300: 4.96e0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45006
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6616
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3788
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South Asian
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East Asian
type: Population
allele count: 0
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Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 9.22126e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

South Asian
type: Population
allele count: 0
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allele num: 11352
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4448
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.717391304347826e-5
allele num: 36800
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 490
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FS
type: SiteQuality
SIO_000300: 5.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 7.85562e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.352e1

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4854
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2854
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35804
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South Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -1.482e0

DP
type: SiteQuality
SIO_000300: 7.67628e5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4624
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34402
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East Asian
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South Asian
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African
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allele count: 1
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allele num: 6054
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Other
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allele num: 454
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.88e-1

DP
type: SiteQuality
SIO_000300: 7.50805e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.676e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0776e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQ
type: SiteQuality
SIO_000300: 5.899e1

Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
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Latino
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2578
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South Asian
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East Asian
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.32e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.659e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.36596e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

QD
type: SiteQuality
SIO_000300: 1.843e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3596
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South Asian
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allele num: 10474
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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 count: 124
allele frequency: 2.245563201738501e-2
allele num: 5522
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.274394237066143e-5
allele num: 30540
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Latino
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allele frequency: 1.302083333333333e-3
allele num: 3840
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
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QD
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East Asian
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allele frequency: 0.0e0
allele num: 2236
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European (Non-Finnish)
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allele count: 0
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African
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European (Finnish)
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Other
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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Latino
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allele num: 1188
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European (Non-Finnish)
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East Asian
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African
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allele num: 2734
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European (Finnish)
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South Asian
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DP
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.998e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
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allele frequency: 1.278445410380977e-4
allele num: 7822
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

European (Finnish)
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South Asian
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Latino
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East Asian
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African
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Other
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allele num: 228
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FS
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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 (Non-Finnish)
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allele count: 0
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South Asian
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Other
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InbreedingCoeff
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DP
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QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

FS
type: SiteQuality
SIO_000300: 2.158e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

East Asian
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Latino
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allele count: 0
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allele num: 898
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European (Finnish)
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allele count: 0
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South Asian
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African
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European (Non-Finnish)
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allele count: 0
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MQRankSum
type: SiteQuality
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MQ
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FS
type: SiteQuality
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QD
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BaseQRankSum
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.827e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.06e-2

DP
type: SiteQuality
SIO_000300: 4.23059e5

Other
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: 444
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.828854314002829e-4
allele num: 7070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.01368e5

FS
type: SiteQuality
SIO_000300: 3.304e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.688e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.25e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.363e0

QD
type: SiteQuality
SIO_000300: 1.166e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.811e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

DP
type: SiteQuality
SIO_000300: 3.64213e5

QD
type: SiteQuality
SIO_000300: 7.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.69e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.175e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.82e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-2

DP
type: SiteQuality
SIO_000300: 3.57005e5

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.42479e5

QD
type: SiteQuality
SIO_000300: 1.833e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5618
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.11e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 3.24897e5

QD
type: SiteQuality
SIO_000300: 9.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 1
allele frequency: 1.87336080929187e-4
allele num: 5338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.06e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

FS
type: SiteQuality
SIO_000300: 8.616e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.07e1

DP
type: SiteQuality
SIO_000300: 3.64975e5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.016e0

MQRankSum
type: SiteQuality
SIO_000300: 5.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 4.17949e5

VQSLOD
type: SiteQuality
SIO_000300: -7.259e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.11e-2

South Asian
type: Population
allele count: 1
allele frequency: 1.374003847210772e-4
allele num: 7278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11972
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.751e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.72e-2

MQ
type: SiteQuality
SIO_000300: 5.896e1

QD
type: SiteQuality
SIO_000300: 1.246e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 5.16327e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.816163826793809e-5
allele num: 12794
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 5.27817e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2706
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1648
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.98e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.139e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 4.959e1

DP
type: SiteQuality
SIO_000300: 5.67511e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.194e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -6.156e-1

Latino
type: Population
allele count: 29
allele frequency: 1.607538802660754e-2
allele num: 1804
num of homozygotes: 1

African
type: Population
allele count: 3
allele frequency: 1.069137562366358e-3
allele num: 2806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 198
allele frequency: 1.197097944377267e-2
allele num: 16540
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 36
allele frequency: 2.898550724637681e-2
allele num: 1242
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.524861878453039e-4
allele num: 1810
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 3.378378378378379e-2
allele num: 296
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 5.99e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.83428e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.394e1

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 1.47463625639009e-3
allele num: 20344
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.164556962025316e-3
allele num: 316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 3.460207612456748e-3
allele num: 1156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

MQ
type: SiteQuality
SIO_000300: 5.705e1

VQSLOD
type: SiteQuality
SIO_000300: -1.968e1

FS
type: SiteQuality
SIO_000300: 6.430200000000001e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.667e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

DP
type: SiteQuality
SIO_000300: 6.40865e5

QD
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.150066401062417e-5
allele num: 24096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1738
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.601e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 6.68301e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3438
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 1.335113484646195e-3
allele num: 2996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.109e1

VQSLOD
type: SiteQuality
SIO_000300: 7.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

FS
type: SiteQuality
SIO_000300: 2.844e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.48e-1

DP
type: SiteQuality
SIO_000300: 6.7986e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10872
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 1.961e0

DP
type: SiteQuality
SIO_000300: 7.31402e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

QD
type: SiteQuality
SIO_000300: 1.466e1

MQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.92e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31572
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 3.991e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.43447e5

VQSLOD
type: SiteQuality
SIO_000300: 8.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.501e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 5.74052812858783e-4
allele num: 3484
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.537942236434698e-4
allele num: 39402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4886
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MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

DP
type: SiteQuality
SIO_000300: 8.5753e5

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 4.931e0

QD
type: SiteQuality
SIO_000300: 1.042e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7356
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South Asian
type: Population
allele count: 1
allele frequency: 7.267441860465116e-5
allele num: 13760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.055e0

VQSLOD
type: SiteQuality
SIO_000300: -2.328e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.088011e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

Latino
type: Population
allele count: 1
allele frequency: 1.054629824931449e-4
allele num: 9482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13892
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.369e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.849e0

FS
type: SiteQuality
SIO_000300: 6.429e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.96e0

DP
type: SiteQuality
SIO_000300: 1.107918e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.668613382279326e-5
allele num: 59930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5722
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.525e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.931e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.102e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.272919e6

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

FS
type: SiteQuality
SIO_000300: 7.952e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.641066036497309e-5
allele num: 60936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 1.29394e6

QD
type: SiteQuality
SIO_000300: 9.01e0

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 1.421e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9134
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: -5.989e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.03e-1

DP
type: SiteQuality
SIO_000300: 1.324307e6

MQRankSum
type: SiteQuality
SIO_000300: -1.808e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQ
type: SiteQuality
SIO_000300: 5.581e1

FS
type: SiteQuality
SIO_000300: 5.005e0

QD
type: SiteQuality
SIO_000300: 2.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.599692858971077e-5
allele num: 62512
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 838
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 1.328346e6

QD
type: SiteQuality
SIO_000300: 1.279e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.76e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595456140910686e-5
allele num: 62678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.1504e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 1.335047e6

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -3.359e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.558e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9342
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.913021298303788e-4
allele num: 15682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

DP
type: SiteQuality
SIO_000300: 1.351309e6

FS
type: SiteQuality
SIO_000300: 3.714e0

QD
type: SiteQuality
SIO_000300: 5.3e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577336824505505e-5
allele num: 63398
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.354256e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.335e1

FS
type: SiteQuality
SIO_000300: 1.8144e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.721e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e0

VQSLOD
type: SiteQuality
SIO_000300: -3.227e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000840235265874e-5
allele num: 66648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 1.403e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

QD
type: SiteQuality
SIO_000300: 1.551e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

DP
type: SiteQuality
SIO_000300: 1.463809e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.188775510204081e-4
allele num: 9408
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.84e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

FS
type: SiteQuality
SIO_000300: 3.01e0

VQSLOD
type: SiteQuality
SIO_000300: -5.235e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.917e0

DP
type: SiteQuality
SIO_000300: 1.370467e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.42e1

African
type: Population
allele count: 155
allele frequency: 1.602895553257497e-2
allele num: 9670
num of homozygotes: 1

Latino
type: Population
allele count: 9
allele frequency: 7.8506629448709e-4
allele num: 11464
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54669471339747e-5
allele num: 64654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
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South Asian
type: Population
allele count: 1
allele frequency: 6.284565108094519e-5
allele num: 15912
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.389199e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
type: SiteQuality
SIO_000300: 1.055e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537373551025428e-5
allele num: 65046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 4.812e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.433e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.984e0

DP
type: SiteQuality
SIO_000300: 1.402156e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.068425897514575e-5
allele num: 65180
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

MQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

DP
type: SiteQuality
SIO_000300: 1.406416e6

QD
type: SiteQuality
SIO_000300: 1.404e1

VQSLOD
type: SiteQuality
SIO_000300: 6.49e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.337265787647467e-4
allele num: 11528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.413145e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.118e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.116e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52587890625e-5
allele num: 65536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.707e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.384e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
type: SiteQuality
SIO_000300: 9.266999999999999e0

DP
type: SiteQuality
SIO_000300: 1.419929e6

QD
type: SiteQuality
SIO_000300: 1.377e1

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523600572873815e-5
allele num: 65634
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.329e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.1903e1

DP
type: SiteQuality
SIO_000300: 1.42403e6

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

QD
type: SiteQuality
SIO_000300: 2.046e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520866285436184e-5
allele num: 65752
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.441e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.193e0

QD
type: SiteQuality
SIO_000300: 1.006e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.52e0

DP
type: SiteQuality
SIO_000300: 1.429825e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.303e0

VQSLOD
type: SiteQuality
SIO_000300: -1.349e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65848
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.101281269066504e-5
allele num: 16390
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e-1

FS
type: SiteQuality
SIO_000300: 4.673e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.432586e6

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65876
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

DP
type: SiteQuality
SIO_000300: 1.433844e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -1.716e0

QD
type: SiteQuality
SIO_000300: 9.5e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

DP
type: SiteQuality
SIO_000300: 1.434568e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

QD
type: SiteQuality
SIO_000300: 1.485e1

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

DP
type: SiteQuality
SIO_000300: 1.436413e6

QD
type: SiteQuality
SIO_000300: 1.433e1

VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 9.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.528e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.194e0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66080
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.836e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.09e0

DP
type: SiteQuality
SIO_000300: 1.437976e6

VQSLOD
type: SiteQuality
SIO_000300: -2.217e0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.43864e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

QD
type: SiteQuality
SIO_000300: 1.185e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.43e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

Latino
type: Population
allele count: 11
allele frequency: 9.508990318118949e-4
allele num: 11568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66140
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.271e1

DP
type: SiteQuality
SIO_000300: 1.439207e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

FS
type: SiteQuality
SIO_000300: 1.728e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.95579894386857e-4
allele num: 10226
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.473830477072719e-4
allele num: 8636
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.587e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.051e1

FS
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 1.439839e6

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509707418702255e-5
allele num: 66238
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.593360995850622e-4
allele num: 11568
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.353e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

DP
type: SiteQuality
SIO_000300: 1.441595e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.539951573849879e-5
allele num: 66080
num of homozygotes: 0

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

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

African
type: Population
allele count: 4
allele frequency: 3.909304143862392e-4
allele num: 10232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.55e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 1.444655e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

FS
type: SiteQuality
SIO_000300: 7.69e-1

QD
type: SiteQuality
SIO_000300: 2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.02571860816944e-5
allele num: 66100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 7.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.39e-1

FS
type: SiteQuality
SIO_000300: 7.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.982e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.444705e6

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509433962264151e-5
allele num: 66250
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

FS
type: SiteQuality
SIO_000300: 1.764e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

DP
type: SiteQuality
SIO_000300: 1.442779e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

African
type: Population
allele count: 1
allele frequency: 9.752291788570315e-5
allele num: 10254
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 13
allele frequency: 7.876878332525448e-4
allele num: 16504
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

FS
type: SiteQuality
SIO_000300: 1.764e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 1.442779e6

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

QD
type: SiteQuality
SIO_000300: 1.096e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

European (Finnish)
type: Population
allele count: 62
allele frequency: 9.382566585956417e-3
allele num: 6608
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 188
allele frequency: 2.837478869838203e-3
allele num: 66256
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.320774282751469e-4
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.333333333333334e-3
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.875195007800312e-4
allele num: 10256
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.454554e6

FS
type: SiteQuality
SIO_000300: 4.955e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.058e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018594542381067e-5
allele num: 66256
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.875195007800312e-4
allele num: 10256
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

DP
type: SiteQuality
SIO_000300: 1.443275e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 2.446e0

QD
type: SiteQuality
SIO_000300: 1.742e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508887346470713e-5
allele num: 66274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.194e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-1

FS
type: SiteQuality
SIO_000300: 4.192e0

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

DP
type: SiteQuality
SIO_000300: 1.443217e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

MQ
type: SiteQuality
SIO_000300: 5.852e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.833e0

QD
type: SiteQuality
SIO_000300: 1.104e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.443426e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.183e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.275e1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

FS
type: SiteQuality
SIO_000300: 2.541e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.444118e6

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.68e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1