1-103488491-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488491
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488491
    reference: chr 1
allele count: 4
allele frequency: 3.309723969020984e-5
allele num: 120856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.935A>G
  hgvsp: ENSP00000302551.6:p.Gln312Arg
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1166A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1088A>G
  hgvsp: ENSP00000351163.2:p.Gln363Arg
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1088A>G
  hgvsp: ENSP00000408640.1:p.Gln363Arg
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1052A>G
  hgvsp: ENSP00000359114.3:p.Gln351Arg
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3000
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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
  all individuals: 4044
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln351Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-103488492-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488492
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488492
    reference: chr 1
allele count: 3
allele frequency: 2.482744922786633e-5
allele num: 120834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1087C>A
  hgvsp: ENSP00000351163.2:p.Gln363Lys
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.934C>A
  hgvsp: ENSP00000302551.6:p.Gln312Lys
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1051C>A
  hgvsp: ENSP00000359114.3:p.Gln351Lys
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1087C>A
  hgvsp: ENSP00000408640.1:p.Gln363Lys
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1167C>A
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
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: 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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 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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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 199
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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: 13337
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gln351Lys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

1-103488500-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488500
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488500
    reference: chr 1
allele count: 3
allele frequency: 2.484389751064147e-5
allele num: 120754
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1043A>T
  hgvsp: ENSP00000359114.3:p.Tyr348Phe
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.926A>T
  hgvsp: ENSP00000302551.6:p.Tyr309Phe
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1079A>T
  hgvsp: ENSP00000351163.2:p.Tyr360Phe
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1175A>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1079A>T
  hgvsp: ENSP00000408640.1:p.Tyr360Phe
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 13332
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Tyr348Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-103488504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488504
    reference: chr 1
allele count: 7
allele frequency: 5.799310710498409e-5
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1039G>A
  hgvsp: ENSP00000359114.3:p.Asp347Asn
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.922G>A
  hgvsp: ENSP00000302551.6:p.Asp308Asn
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1075G>A
  hgvsp: ENSP00000351163.2:p.Asp359Asn
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1075G>A
  hgvsp: ENSP00000408640.1:p.Asp359Asn
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1179G>A
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6944
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp347Asn
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

1-103488510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488510
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488510
    reference: chr 1
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1185G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1033G>A
  hgvsp: ENSP00000359114.3:p.Gly345Arg
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1069G>A
  hgvsp: ENSP00000408640.1:p.Gly357Arg
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.916G>A
  hgvsp: ENSP00000302551.6:p.Gly306Arg
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1069G>A
  hgvsp: ENSP00000351163.2:p.Gly357Arg
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly345Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

1-103488511-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488511
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488511
    reference: chr 1
allele count: 8
allele frequency: 6.633279161553514e-5
allele num: 120604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1068G>A
  hgvsp: ENST00000427239.1:c.1068G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1032G>A
  hgvsp: ENST00000370096.3:c.1032G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1068G>A
  hgvsp: ENST00000358392.2:c.1068G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.915G>A
  hgvsp: ENST00000353414.4:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1186G>A
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10666
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13312
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr344Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-103488512-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488512
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488512
    reference: chr 1
allele count: 3
allele frequency: 2.487850994311114e-5
allele num: 120586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1067C>T
  hgvsp: ENSP00000351163.2:p.Thr356Met
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1187C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1031C>T
  hgvsp: ENSP00000359114.3:p.Thr344Met
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.914C>T
  hgvsp: ENSP00000302551.6:p.Thr305Met
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1067C>T
  hgvsp: ENSP00000408640.1:p.Thr356Met
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10651
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8073
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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
  all individuals: 3922
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 2354
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
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genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr344Met
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-103488514-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488514
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488514
    reference: chr 1
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1065A>G
  hgvsp: ENST00000427239.1:c.1065A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1189A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1065A>G
  hgvsp: ENST00000358392.2:c.1065A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1029A>G
  hgvsp: ENST00000370096.3:c.1029A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.912A>G
  hgvsp: ENST00000353414.4:c.912A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10582
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23841
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu343Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

1-103488516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488516
    reference: chr 1
allele count: 1
allele frequency: 8.297102651754007e-6
allele num: 120524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1191C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1063C>T
  hgvsp: ENST00000427239.1:c.1063C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1027C>T
  hgvsp: ENST00000370096.3:c.1027C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1063C>T
  hgvsp: ENST00000358392.2:c.1063C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.910C>T
  hgvsp: ENST00000353414.4:c.910C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13298
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23937
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu343Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-103488522-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488522
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488522
    reference: chr 1
allele count: 86
allele frequency: 7.137758743754461e-4
allele num: 120486
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1021G>C
  hgvsp: ENSP00000359114.3:p.Glu341Gln
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1057G>C
  hgvsp: ENSP00000351163.2:p.Glu353Gln
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1197G>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.904G>C
  hgvsp: ENSP00000302551.6:p.Glu302Gln
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1057G>C
  hgvsp: ENSP00000408640.1:p.Glu353Gln
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15650
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10504
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6887
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7991
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13324
  bin: 9.75e1
  variant carriers: 86
hgvs: p.Glu341Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-103488529-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488529
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488529
    reference: chr 1
allele count: 1
allele frequency: 8.307027745472669e-6
allele num: 120380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1050T>A
  hgvsp: ENSP00000408640.1:p.Phe350Leu
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1014T>A
  hgvsp: ENSP00000359114.3:p.Phe338Leu
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1204T>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.897T>A
  hgvsp: ENSP00000302551.6:p.Phe299Leu
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1050T>A
  hgvsp: ENSP00000351163.2:p.Phe350Leu
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7931
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe338Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-103488532-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488532
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488532
    reference: chr 1
allele count: 7
allele frequency: 5.816078965734986e-5
allele num: 120356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1047A>T
  hgvsp: ENST00000427239.1:c.1047A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1207A>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.894A>T
  hgvsp: ENST00000353414.4:c.894A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1011A>T
  hgvsp: ENST00000370096.3:c.1011A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1047A>T
  hgvsp: ENST00000358392.2:c.1047A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7923
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile337Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-103488534-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488534
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488534
    reference: chr 1
allele count: 3
allele frequency: 2.493641214902e-5
allele num: 120306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1045A>G
  hgvsp: ENSP00000351163.2:p.Ile349Val
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.892A>G
  hgvsp: ENSP00000302551.6:p.Ile298Val
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1045A>G
  hgvsp: ENSP00000408640.1:p.Ile349Val
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1209A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1009A>G
  hgvsp: ENSP00000359114.3:p.Ile337Val
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile337Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-103488534-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488534
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488534
    reference: chr 1
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.892A>C
  hgvsp: ENSP00000302551.6:p.Ile298Leu
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1045A>C
  hgvsp: ENSP00000408640.1:p.Ile349Leu
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1209A>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1045A>C
  hgvsp: ENSP00000351163.2:p.Ile349Leu
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1009A>C
  hgvsp: ENSP00000359114.3:p.Ile337Leu
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13258
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3850
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile337Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-103488540-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488540
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488540
    reference: chr 1
allele count: 1
allele frequency: 8.320436656515735e-6
allele num: 120186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1039G>T
  hgvsp: ENSP00000408640.1:p.Glu347Ter
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.886G>T
  hgvsp: ENSP00000302551.6:p.Glu296Ter
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1039G>T
  hgvsp: ENSP00000351163.2:p.Glu347Ter
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1003G>T
  hgvsp: ENSP00000359114.3:p.Glu335Ter
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1215G>T
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu335Ter
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-103488542-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488542
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488542
    reference: chr 1
allele count: 1
allele frequency: 8.32251406504877e-6
allele num: 120156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1037T>G
  hgvsp: ENSP00000408640.1:p.Val346Gly
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.1001T>G
  hgvsp: ENSP00000359114.3:p.Val334Gly
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.884T>G
  hgvsp: ENSP00000302551.6:p.Val295Gly
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1037T>G
  hgvsp: ENSP00000351163.2:p.Val346Gly
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1217T>G
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7849
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val334Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

1-103488546-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488546
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488546
    reference: chr 1
allele count: 1
allele frequency: 8.330278897737497e-6
allele num: 120044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1221C>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.880C>G
  hgvsp: ENSP00000302551.6:p.Pro294Ala
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.997C>G
  hgvsp: ENSP00000359114.3:p.Pro333Ala
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1033C>G
  hgvsp: ENSP00000351163.2:p.Pro345Ala
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1033C>G
  hgvsp: ENSP00000408640.1:p.Pro345Ala
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3807
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23834
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro333Ala
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

1-103488551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488551
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488551
    reference: chr 1
allele count: 2
allele frequency: 1.667528222915173e-5
allele num: 119938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.875C>T
  hgvsp: ENSP00000302551.6:p.Pro292Leu
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1226C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1028C>T
  hgvsp: ENSP00000408640.1:p.Pro343Leu
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.992C>T
  hgvsp: ENSP00000359114.3:p.Pro331Leu
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1028C>T
  hgvsp: ENSP00000351163.2:p.Pro343Leu
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13248
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro331Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-103488551-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488551
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488551
    reference: chr 1
allele count: 1
allele frequency: 8.337641114575865e-6
allele num: 119938
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.992C>A
  hgvsp: ENSP00000359114.3:p.Pro331Gln
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.875C>A
  hgvsp: ENSP00000302551.6:p.Pro292Gln
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1028C>A
  hgvsp: ENSP00000351163.2:p.Pro343Gln
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1226C>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1028C>A
  hgvsp: ENSP00000408640.1:p.Pro343Gln
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10210
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro331Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

1-103488552-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488552
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488552
    reference: chr 1
allele count: 1
allele frequency: 8.338197281747686e-6
allele num: 119930
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991C>A
  hgvsp: ENSP00000359114.3:p.Pro331Thr
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1227C>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027C>A
  hgvsp: ENSP00000408640.1:p.Pro343Thr
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874C>A
  hgvsp: ENSP00000302551.6:p.Pro292Thr
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027C>A
  hgvsp: ENSP00000351163.2:p.Pro343Thr
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13243
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro331Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-103488555-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488555
    reference: chr 1
allele count: 1
allele frequency: 8.341675008341675e-6
allele num: 119880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-3T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-3T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-3T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-3T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1230T>C
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
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genotype quality: GenotypeQuality
  all individuals: 3755
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
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genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 8.75e1
  variant carriers: 0
hgvs: c.991-3T>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-103488560-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488560
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488560
    reference: chr 1
allele count: 1
allele frequency: 8.34432002136146e-6
allele num: 119842
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-8A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-8A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-8A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-8A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1235A>G
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
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genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7596
  bin: 6.75e1
  variant carriers: 0
hgvs: c.991-8A>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-103488564-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488564
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488564
    reference: chr 1
allele count: 16
allele frequency: 1.336384745168134e-4
allele num: 119726
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-12T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-12T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-12T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1239T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-12T>C
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10008
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14222
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 2160
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 329
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7383
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genotype quality: GenotypeQuality
  all individuals: 565
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3707
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

1-103488564-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488564
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488564
    reference: chr 1
allele count: 1
allele frequency: 8.352404657300837e-6
allele num: 119726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-12T>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-12T>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1239T>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-12T>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-12T>A
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

1-103488565-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488565
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488564
    reference: chr 1
allele count: 11
allele frequency: 9.187184712524639e-5
allele num: 119732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-14delA
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-14delA
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-14delA
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1241delA
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-14delA
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14190
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7384
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: AT
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-103488568-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488568
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488568
    reference: chr 1
allele count: 1
allele frequency: 8.354916868577158e-6
allele num: 119690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-16C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1243C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-16C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-16C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-16C>T
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14150
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13234
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
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genotype quality: GenotypeQuality
  all individuals: 22713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
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genotype quality: GenotypeQuality
  all individuals: 744
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1915
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

1-103488569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488569
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488569
    reference: chr 1
allele count: 1
allele frequency: 8.354777261638205e-6
allele num: 119692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-17G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-17G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1244G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-17G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-17G>A
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9930
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 179
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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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  bin: 6.25e1
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22835
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genotype quality: GenotypeQuality
  all individuals: 568
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

1-103488572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488572
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488572
    reference: chr 1
allele count: 1
allele frequency: 8.358408559010364e-6
allele num: 119640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-20C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-20C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1247C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-20C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-20C>T
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
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  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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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: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 615
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genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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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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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13232
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7227
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-103488582-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488582
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488582
    reference: chr 1
allele count: 1
allele frequency: 8.368480953337351e-6
allele num: 119496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-30T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1257T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-30T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-30T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-30T>C
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
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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
  all individuals: 2987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
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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: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  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: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
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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
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
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genotype quality: GenotypeQuality
  all individuals: 6922
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-103488584-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488584
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488584
    reference: chr 1
allele count: 1
allele frequency: 8.373666493610892e-6
allele num: 119422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-32G>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-32G>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-32G>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1259G>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-32G>T
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12624
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
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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: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 2.25e1
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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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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1087
  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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  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
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-103488584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488584
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488584
    reference: chr 1
allele count: 1
allele frequency: 8.373666493610892e-6
allele num: 119422
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-32G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-32G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1259G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-32G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-32G>A
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9426
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 142
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

1-103488593-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488593
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488593
    reference: chr 1
allele count: 1
allele frequency: 8.429570934839416e-6
allele num: 118630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-41A>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-41A>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1268A>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-41A>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-41A>C
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10692
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 6079
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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: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

1-103488594-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488594
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488594
    reference: chr 1
allele count: 5
allele frequency: 4.215496163898491e-5
allele num: 118610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-42T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-42T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1269T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-42T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-42T>C
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10400
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9025
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 794
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
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genotype depth: GenotypeDepth
  all individuals: 431
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
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genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 408
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genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 486
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genotype quality: GenotypeQuality
  all individuals: 1269
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genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 53
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genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 2.25e1
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genotype quality: GenotypeQuality
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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
  all individuals: 2314
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 212
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

1-103488596-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488596
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488596
    reference: chr 1
allele count: 1
allele frequency: 8.437109783672505e-6
allele num: 118524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1271A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-44A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-44A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-44A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-44A>G
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8931
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 196
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  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
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genotype quality: GenotypeQuality
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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: 2924
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genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-103488599-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488599
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488599
    reference: chr 1
allele count: 4
allele frequency: 3.381062667996551e-5
allele num: 118306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-47A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-47A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-47A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-47A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1274A>G
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8698
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9255
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
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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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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3488
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-103488601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488601
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488601
    reference: chr 1
allele count: 1
allele frequency: 8.512376996152406e-6
allele num: 117476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-49C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-49C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1276C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-49C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-49C>T
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-103488602-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103488602
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103488600
    reference: chr 1
allele count: 3317
allele frequency: 2.801898905257467e-2
allele num: 118384
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.991-52_991-51delTT
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1027-52_1027-51delTT
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.898-1279_898-1278delTT
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1027-52_1027-51delTT
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.874-52_874-51delTT
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.75e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 8942
  bin: 2.75e1
  variant carriers: 489
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 2.25e1
  variant carriers: 411
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 3.75e1
  variant carriers: 327
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 5.25e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 4.75e1
  variant carriers: 213
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 4.25e1
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 1.25e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 1.75e1
  variant carriers: 312
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 6.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 6.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 3.25e1
  variant carriers: 418
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4662
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16334
  bin: 9.75e1
  variant carriers: 3229
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 8.25e1
  variant carriers: 7
num of homozygotes: 71
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: TAA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

1-103491029-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491029
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491029
    reference: chr 1
allele count: 1
allele frequency: 8.450513791238508e-6
allele num: 118336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+48G>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+48G>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+48G>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+48G>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+743G>C
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13829
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-103491030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491030
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491030
    reference: chr 1
allele count: 5
allele frequency: 4.22097656513811e-5
allele num: 118456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+47T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+742T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+47T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+47T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+47T>C
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-103491032-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491032
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491032
    reference: chr 1
allele count: 1
allele frequency: 8.440243079000674e-6
allele num: 118480
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+45T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+45T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+45T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+45T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+740T>C
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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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
  all individuals: 1191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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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: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 43
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-103491032-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491032
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491032
    reference: chr 1
allele count: 1
allele frequency: 8.440243079000674e-6
allele num: 118480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+740T>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+45T>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+45T>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+45T>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+45T>A
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 3.25e1
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
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genotype quality: GenotypeQuality
  all individuals: 1768
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genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

1-103491038-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491038
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491038
    reference: chr 1
allele count: 1
allele frequency: 8.416233230655287e-6
allele num: 118818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+39T>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+39T>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+734T>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+39T>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+39T>A
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6147
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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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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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: 1226
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-103491041-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491041
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491041
    reference: chr 1
allele count: 2
allele frequency: 1.678443746957821e-5
allele num: 119158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+731C>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+36C>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+36C>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+36C>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+36C>A
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 29
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  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-103491047-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491047
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491047
    reference: chr 1
allele count: 4
allele frequency: 3.335723935487099e-5
allele num: 119914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+30G>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+725G>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+30G>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+30G>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+30G>T
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11784
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15307
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 6553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

1-103491047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491047
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491047
    reference: chr 1
allele count: 1
allele frequency: 8.339309838717748e-6
allele num: 119914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+30G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+725G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+30G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+30G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+30G>A
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 15
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 30
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genotype quality: GenotypeQuality
  all individuals: 2805
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genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
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genotype quality: GenotypeQuality
  all individuals: 15307
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 6553
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genotype quality: GenotypeQuality
  all individuals: 105
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-103491048-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491048
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491048
    reference: chr 1
allele count: 7
allele frequency: 5.831681023709949e-5
allele num: 120034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+29A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+29A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+29A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+724A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+29A>G
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24221
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  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
  all individuals: 214
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 335
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15309
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 221
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genotype quality: GenotypeQuality
  all individuals: 28
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24856
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-103491049-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491049
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491049
    reference: chr 1
allele count: 1
allele frequency: 8.324038157390913e-6
allele num: 120134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+28C>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+28C>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+28C>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+723C>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+28C>A
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11891
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1681
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
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genotype depth: GenotypeDepth
  all individuals: 330
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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: 6596
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS

1-103491063-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491063
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491063
    reference: chr 1
allele count: 2
allele frequency: 1.654396558855158e-5
allele num: 120890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+709A>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+14A>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+14A>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+14A>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+14A>T
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 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: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
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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: 15314
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25941
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2579
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6726
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/1-103491066-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491066
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491066
    reference: chr 1
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+11T>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+11T>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+11T>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+11T>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+706T>G
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24901
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genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2170
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genotype depth: GenotypeDepth
  all individuals: 1459
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genotype depth: GenotypeDepth
  all individuals: 6605
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
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genotype depth: GenotypeDepth
  all individuals: 465
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genotype depth: GenotypeDepth
  all individuals: 1095
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genotype depth: GenotypeDepth
  all individuals: 1681
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1330
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genotype depth: GenotypeDepth
  all individuals: 242
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genotype depth: GenotypeDepth
  all individuals: 657
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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: 45
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genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 26053
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genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 2825
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2581
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

1-103491069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491069
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491069
    reference: chr 1
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+8G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+8G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+8G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+703G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+8G>A
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
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genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 24903
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genotype depth: GenotypeDepth
  all individuals: 6615
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genotype depth: GenotypeDepth
  all individuals: 178
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
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genotype depth: GenotypeDepth
  all individuals: 75
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genotype depth: GenotypeDepth
  all individuals: 658
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 242
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genotype depth: GenotypeDepth
  all individuals: 1193
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28
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genotype quality: GenotypeQuality
  all individuals: 6745
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1274
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genotype quality: GenotypeQuality
  all individuals: 39
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  variant carriers: 0
hgvs: c.990+8G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

1-103491070-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491070
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491070
    reference: chr 1
allele count: 29
allele frequency: 2.396139736259378e-4
allele num: 121028
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+7C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+7C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+7C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+7C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+702C>T
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 164
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24903
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 63
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1736
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genotype depth: GenotypeDepth
  all individuals: 1196
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genotype depth: GenotypeDepth
  all individuals: 6618
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 330
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genotype depth: GenotypeDepth
  all individuals: 1688
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3674
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  variant carriers: 0
hgvs: c.990+7C>T
num of homozygotes: 1
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-103491073-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491073
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491073
    reference: chr 1
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+699A>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+4A>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+4A>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+4A>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+4A>T
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: c.990+4A>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/1-103491076-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491076
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491076
    reference: chr 1
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1026+1G>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.990+1G>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+696G>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.873+1G>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1026+1G>T
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 24962
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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genotype depth: GenotypeDepth
  all individuals: 1682
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genotype depth: GenotypeDepth
  all individuals: 41
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genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 19
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 3681
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genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6752
  bin: 6.75e1
  variant carriers: 0
hgvs: c.990+1G>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

1-103491079-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491079
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491079
    reference: chr 1
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+693G>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1024G>C
  hgvsp: ENSP00000408640.1:p.Glu342Gln
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1024G>C
  hgvsp: ENSP00000351163.2:p.Glu342Gln
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.871G>C
  hgvsp: ENSP00000302551.6:p.Glu291Gln
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.988G>C
  hgvsp: ENSP00000359114.3:p.Glu330Gln
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
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genotype depth: GenotypeDepth
  all individuals: 24957
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12348
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genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 657
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
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genotype depth: GenotypeDepth
  all individuals: 1098
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genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
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genotype quality: GenotypeQuality
  all individuals: 18
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genotype quality: GenotypeQuality
  all individuals: 6759
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 15320
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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: 15
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu330Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-103491081-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491081
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491081
    reference: chr 1
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.986A>G
  hgvsp: ENSP00000359114.3:p.Asn329Ser
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1022A>G
  hgvsp: ENSP00000408640.1:p.Asn341Ser
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1022A>G
  hgvsp: ENSP00000351163.2:p.Asn341Ser
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.869A>G
  hgvsp: ENSP00000302551.6:p.Asn290Ser
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+691A>G
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24969
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genotype depth: GenotypeDepth
  all individuals: 34
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genotype depth: GenotypeDepth
  all individuals: 330
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3413
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
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genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1333
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3682
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15320
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genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn329Ser
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

1-103491088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491088
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491088
    reference: chr 1
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.979G>A
  hgvsp: ENSP00000359114.3:p.Gly327Arg
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.862G>A
  hgvsp: ENSP00000302551.6:p.Gly288Arg
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1015G>A
  hgvsp: ENSP00000351163.2:p.Gly339Arg
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+684G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1015G>A
  hgvsp: ENSP00000408640.1:p.Gly339Arg
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12382
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly327Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-103491089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491089
    reference: chr 1
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1014T>C
  hgvsp: ENST00000427239.1:c.1014T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.861T>C
  hgvsp: ENST00000353414.4:c.861T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1014T>C
  hgvsp: ENST00000358392.2:c.1014T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+683T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.978T>C
  hgvsp: ENST00000370096.3:c.978T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26274
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15321
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser326Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-103491094-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491094
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491094
    reference: chr 1
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1009G>T
  hgvsp: ENSP00000408640.1:p.Val337Phe
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+678G>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1009G>T
  hgvsp: ENSP00000351163.2:p.Val337Phe
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.856G>T
  hgvsp: ENSP00000302551.6:p.Val286Phe
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.973G>T
  hgvsp: ENSP00000359114.3:p.Val325Phe
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val325Phe
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

1-103491096-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491096
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491096
    reference: chr 1
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+676A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1007A>G
  hgvsp: ENSP00000351163.2:p.His336Arg
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1007A>G
  hgvsp: ENSP00000408640.1:p.His336Arg
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.854A>G
  hgvsp: ENSP00000302551.6:p.His285Arg
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.971A>G
  hgvsp: ENSP00000359114.3:p.His324Arg
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His324Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-103491102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491102
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491102
    reference: chr 1
allele count: 12
allele frequency: 9.894948628725035e-5
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.965C>T
  hgvsp: ENSP00000359114.3:p.Pro322Leu
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.1001C>T
  hgvsp: ENSP00000408640.1:p.Pro334Leu
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.1001C>T
  hgvsp: ENSP00000351163.2:p.Pro334Leu
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.848C>T
  hgvsp: ENSP00000302551.6:p.Pro283Leu
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+670C>T
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15328
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro322Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-103491110-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491110
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491110
    reference: chr 1
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+662A>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.957A>C
  hgvsp: ENST00000370096.3:c.957A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.993A>C
  hgvsp: ENST00000358392.2:c.993A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.840A>C
  hgvsp: ENST00000353414.4:c.840A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.993A>C
  hgvsp: ENST00000427239.1:c.993A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr319Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-103491120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491120
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491120
    reference: chr 1
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.983G>A
  hgvsp: ENSP00000408640.1:p.Ser328Asn
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.830G>A
  hgvsp: ENSP00000302551.6:p.Ser277Asn
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.983G>A
  hgvsp: ENSP00000351163.2:p.Ser328Asn
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+652G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.947G>A
  hgvsp: ENSP00000359114.3:p.Ser316Asn
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser316Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-103491121-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491121
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491121
    reference: chr 1
allele count: 8
allele frequency: 6.597285217133149e-5
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+651A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.982A>G
  hgvsp: ENSP00000408640.1:p.Ser328Gly
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.982A>G
  hgvsp: ENSP00000351163.2:p.Ser328Gly
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.946A>G
  hgvsp: ENSP00000359114.3:p.Ser316Gly
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.829A>G
  hgvsp: ENSP00000302551.6:p.Ser277Gly
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser316Gly
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

1-103491134-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491134
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491134
    reference: chr 1
allele count: 2
allele frequency: 1.649566164098842e-5
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.969T>C
  hgvsp: ENST00000427239.1:c.969T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.816T>C
  hgvsp: ENST00000353414.4:c.816T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.969T>C
  hgvsp: ENST00000358392.2:c.969T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.933T>C
  hgvsp: ENST00000370096.3:c.933T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+638T>C
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15321
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr311Tyr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

1-103491138-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491138
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491138
    reference: chr 1
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.965A>G
  hgvsp: ENSP00000408640.1:p.Asn322Ser
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.965A>G
  hgvsp: ENSP00000351163.2:p.Asn322Ser
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.812A>G
  hgvsp: ENSP00000302551.6:p.Asn271Ser
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.929A>G
  hgvsp: ENSP00000359114.3:p.Asn310Ser
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+634A>G
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn310Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-103491139-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491139
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491139
    reference: chr 1
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.928A>C
  hgvsp: ENSP00000359114.3:p.Asn310His
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.964A>C
  hgvsp: ENSP00000408640.1:p.Asn322His
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.964A>C
  hgvsp: ENSP00000351163.2:p.Asn322His
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+633A>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.811A>C
  hgvsp: ENSP00000302551.6:p.Asn271His
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn310His
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

1-103491140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491140
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491140
    reference: chr 1
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+632C>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.927C>T
  hgvsp: ENST00000370096.3:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.810C>T
  hgvsp: ENST00000353414.4:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.963C>T
  hgvsp: ENST00000427239.1:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.963C>T
  hgvsp: ENST00000358392.2:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26103
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr309Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

1-103491141-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491141
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491141
    reference: chr 1
allele count: 9
allele frequency: 7.424517406368586e-5
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.962A>T
  hgvsp: ENSP00000351163.2:p.Tyr321Phe
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.926A>T
  hgvsp: ENSP00000359114.3:p.Tyr309Phe
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.962A>T
  hgvsp: ENSP00000408640.1:p.Tyr321Phe
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+631A>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.809A>T
  hgvsp: ENSP00000302551.6:p.Tyr270Phe
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr309Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

1-103491144-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491144
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491144
    reference: chr 1
allele count: 2
allele frequency: 1.650110557407346e-5
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+628A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.806A>G
  hgvsp: ENSP00000302551.6:p.Glu269Gly
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.959A>G
  hgvsp: ENSP00000351163.2:p.Glu320Gly
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.959A>G
  hgvsp: ENSP00000408640.1:p.Glu320Gly
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.923A>G
  hgvsp: ENSP00000359114.3:p.Glu308Gly
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu308Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-103491146-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491146
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491146
    reference: chr 1
allele count: 2
allele frequency: 1.650219479190732e-5
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.957A>G
  hgvsp: ENST00000358392.2:c.957A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+626A>G
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.921A>G
  hgvsp: ENST00000370096.3:c.921A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.804A>G
  hgvsp: ENST00000353414.4:c.804A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.957A>G
  hgvsp: ENST00000427239.1:c.957A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15322
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln307Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-103491154-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491154
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491154
    reference: chr 1
allele count: 9
allele frequency: 7.428561995476831e-5
allele num: 121154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.949G>T
  hgvsp: ENSP00000408640.1:p.Asp317Tyr
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.796G>T
  hgvsp: ENSP00000302551.6:p.Asp266Tyr
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.913G>T
  hgvsp: ENSP00000359114.3:p.Asp305Tyr
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+618G>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.949G>T
  hgvsp: ENSP00000351163.2:p.Asp317Tyr
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp305Tyr
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS

1-103491156-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491156
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491156
    reference: chr 1
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.794A>T
  hgvsp: ENSP00000302551.6:p.Asp265Val
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.911A>T
  hgvsp: ENSP00000359114.3:p.Asp304Val
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+616A>T
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.947A>T
  hgvsp: ENSP00000351163.2:p.Asp316Val
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.947A>T
  hgvsp: ENSP00000408640.1:p.Asp316Val
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp304Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-103491159-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491159
    reference: chr 1
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+613T>C
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.908T>C
  hgvsp: ENSP00000359114.3:p.Val303Ala
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.791T>C
  hgvsp: ENSP00000302551.6:p.Val264Ala
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.944T>C
  hgvsp: ENSP00000408640.1:p.Val315Ala
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.944T>C
  hgvsp: ENSP00000351163.2:p.Val315Ala
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15322
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val303Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

1-103491160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 103491160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 103491160
    reference: chr 1
allele count: 7
allele frequency: 5.780251358359069e-5
allele num: 121102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000302551
  ensembl transcript: ENST00000353414
  gene symbol: COL11A1
  hgvsc: ENST00000353414.4:c.790G>A
  hgvsp: ENSP00000302551.6:p.Val264Ile
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000408640
  ensembl transcript: ENST00000427239
  gene symbol: COL11A1
  hgvsc: ENST00000427239.1:c.943G>A
  hgvsp: ENSP00000408640.1:p.Val315Ile
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000359114
  ensembl transcript: ENST00000370096
  gene symbol: COL11A1
  hgvsc: ENST00000370096.3:c.907G>A
  hgvsp: ENSP00000359114.3:p.Val303Ile
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000426533
  ensembl transcript: ENST00000512756
  gene symbol: COL11A1
  hgvsc: ENST00000512756.1:c.897+612G>A
  variant of: http://identifiers.org/hgnc/2186
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000060718
  ensembl protein: ENSP00000351163
  ensembl transcript: ENST00000358392
  gene symbol: COL11A1
  hgvsc: ENST00000358392.2:c.943G>A
  hgvsp: ENSP00000351163.2:p.Val315Ile
  variant of: http://identifiers.org/hgnc/2186
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12457
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val303Ile
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13343
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 428
bin: 2.25e1
variant carriers: 0

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

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

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: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.017752369489996e-5
allele num: 66470
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.669e0

DP
type: SiteQuality
SIO_000300: 2.256847e6

FS
type: SiteQuality
SIO_000300: 6.229e0

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.106e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.513721714010592e-5
allele num: 66464
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

QD
type: SiteQuality
SIO_000300: 1.322e1

FS
type: SiteQuality
SIO_000300: 1.111e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 2.256586e6

GenotypeQuality
all individuals: 3032
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2364
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4008
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.820167455405897e-4
allele num: 16482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

QD
type: SiteQuality
SIO_000300: 1.65e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.075e0

DP
type: SiteQuality
SIO_000300: 2.252886e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

GenotypeQuality
all individuals: 24059
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13328
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3019
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.033423667570009e-5
allele num: 66420
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.303e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.981e0

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

DP
type: SiteQuality
SIO_000300: 2.250959e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 3949
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3003
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23874
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.863878477017163e-5
allele num: 10138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 2.247013e6

FS
type: SiteQuality
SIO_000300: 2.463e0

VQSLOD
type: SiteQuality
SIO_000300: -1.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e0

QD
type: SiteQuality
SIO_000300: 1.073e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.535e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.915e1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

GenotypeQuality
all individuals: 2358
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2766
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8104
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.054629824931449e-4
allele num: 66374
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: 8580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.867771857114664e-5
allele num: 10134
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 3.341e0

MQRankSum
type: SiteQuality
SIO_000300: -2.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.246433e6

QD
type: SiteQuality
SIO_000300: 1.032e1

GenotypeQuality
all individuals: 202
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13302
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1308
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.974723538704581e-4
allele num: 10128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506886471173262e-5
allele num: 66362
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 2.245443e6

VQSLOD
type: SiteQuality
SIO_000300: -5.44e-1

FS
type: SiteQuality
SIO_000300: 3.391e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

QD
type: SiteQuality
SIO_000300: 8.550000000000001e0

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8048
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2751
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13299
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507204437209863e-5
allele num: 66348
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e0

VQSLOD
type: SiteQuality
SIO_000300: -2.203e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.399e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.327e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 2.243046e6

GenotypeQuality
all individuals: 781
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3912
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.957e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.893e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.18e-1

FS
type: SiteQuality
SIO_000300: 2.38e0

QD
type: SiteQuality
SIO_000300: 1.461e1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.68e-1

DP
type: SiteQuality
SIO_000300: 2.242452e6

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2977
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.05143721633888e-4
allele num: 6610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 80
allele frequency: 1.206308996049338e-3
allele num: 66318
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.9147332936744e-5
allele num: 10086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.240676e6

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

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

GenotypeQuality
all individuals: 1305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2689
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24039
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2344
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.962143853357243e-5
allele num: 10038
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

DP
type: SiteQuality
SIO_000300: 2.235145e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.372e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

GenotypeQuality
all individuals: 3857
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13259
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2963
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.256354128663505e-4
allele num: 16446
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.233976e6

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
all individuals: 992
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23818
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3850
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13258
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2344
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.527071889901611e-5
allele num: 66268
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.232301e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

QD
type: SiteQuality
SIO_000300: 1.522e1

FS
type: SiteQuality
SIO_000300: 4.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

MQ
type: SiteQuality
SIO_000300: 5.868e1

GenotypeQuality
all individuals: 268
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2344
bin: 9.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e-1

FS
type: SiteQuality
SIO_000300: 4.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

DP
type: SiteQuality
SIO_000300: 2.232301e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

QD
type: SiteQuality
SIO_000300: 1.522e1

MQ
type: SiteQuality
SIO_000300: 5.868e1

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13253
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1301
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23871
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
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: 1
allele frequency: 1.510254628930438e-5
allele num: 66214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
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: 8564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.767e0

QD
type: SiteQuality
SIO_000300: 1.081e1

FS
type: SiteQuality
SIO_000300: 1.085e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

DP
type: SiteQuality
SIO_000300: 2.229139e6

GenotypeQuality
all individuals: 257
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66210
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.613e0

MQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.782e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.027e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.47e0

VQSLOD
type: SiteQuality
SIO_000300: -1.61e0

MQ
type: SiteQuality
SIO_000300: 5.872e1

DP
type: SiteQuality
SIO_000300: 2.227478e6

GenotypeQuality
all individuals: 13248
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 277
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2341
bin: 9.25e1
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GenotypeQuality
all individuals: 2636
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9892
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: 1.511578692786746e-5
allele num: 66156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.224347e6

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 1.013e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
all individuals: 330
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7717
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23627
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variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 3787
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variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 8.75e1
variant carriers: 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: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.03210729526519e-4
allele num: 9842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

DP
type: SiteQuality
SIO_000300: 2.220004e6

QD
type: SiteQuality
SIO_000300: 8.68e0

FS
type: SiteQuality
SIO_000300: 6.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.327e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.86e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2935
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variant carriers: 0

GenotypeQuality
all individuals: 23627
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13248
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2341
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169317118802619e-4
allele num: 8552
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 6.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

DP
type: SiteQuality
SIO_000300: 2.220004e6

QD
type: SiteQuality
SIO_000300: 8.68e0

VQSLOD
type: SiteQuality
SIO_000300: -5.327e-1

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3775
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
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variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

FS
type: SiteQuality
SIO_000300: 5.905e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.219072e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.185e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

GenotypeQuality
all individuals: 22812
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13237
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2338
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513042425709617e-5
allele num: 66092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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: 8546
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

DP
type: SiteQuality
SIO_000300: 2.213019e6

FS
type: SiteQuality
SIO_000300: 5.17e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.89e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

GenotypeQuality
all individuals: 415
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3737
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2337
bin: 9.25e1
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GenotypeQuality
all individuals: 2565
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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: 8542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513454611496201e-5
allele num: 66074
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.21064e6

FS
type: SiteQuality
SIO_000300: 1.4856e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.623e0

QD
type: SiteQuality
SIO_000300: 1.091e1

MQ
type: SiteQuality
SIO_000300: 5.878e1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.155e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -2.134e0

GenotypeQuality
all individuals: 468
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 16

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.423875170428723e-4
allele num: 66010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

DP
type: SiteQuality
SIO_000300: 2.200508e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

FS
type: SiteQuality
SIO_000300: 1.163e0

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13247
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 565
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GenotypeQuality
all individuals: 7383
bin: 6.75e1
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GenotypeQuality
all individuals: 1289
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66010
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

FS
type: SiteQuality
SIO_000300: 1.163e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

DP
type: SiteQuality
SIO_000300: 2.200508e6

GenotypeQuality
all individuals: 13244
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 3702
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GenotypeQuality
all individuals: 371
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variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.561891515994437e-4
allele num: 11504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66012
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.077e1

DP
type: SiteQuality
SIO_000300: 2.199876e6

MQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

QD
type: SiteQuality
SIO_000300: 1.558e1

GenotypeQuality
all individuals: 2878
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-5
allele num: 65980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

DP
type: SiteQuality
SIO_000300: 2.199154e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 2.627e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-2

GenotypeQuality
all individuals: 176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2506
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515564851019975e-5
allele num: 65982
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.025e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.198982e6

FS
type: SiteQuality
SIO_000300: 1.725e0

QD
type: SiteQuality
SIO_000300: 1.061e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.817e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.817e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.023960679909891e-4
allele num: 9766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65952
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 1.809e1

VQSLOD
type: SiteQuality
SIO_000300: -1.596e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 2.191128e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20801
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3577
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65856
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.099048548426445e-5
allele num: 16396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 1.0948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.975e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 2.170563e6

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

GenotypeQuality
all individuals: 1088
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519710647092794e-5
allele num: 65802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.194e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.254e0

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.551e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

DP
type: SiteQuality
SIO_000300: 2.163998e6

QD
type: SiteQuality
SIO_000300: 6.84e0

GenotypeQuality
all individuals: 2322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3558
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519710647092794e-5
allele num: 65802
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.551e0

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

FS
type: SiteQuality
SIO_000300: 1.194e0

QD
type: SiteQuality
SIO_000300: 6.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 2.163998e6

VQSLOD
type: SiteQuality
SIO_000300: -1.254e0

GenotypeQuality
all individuals: 1072
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2658
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6249
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15276
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13219
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.786e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.469e0

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

DP
type: SiteQuality
SIO_000300: 2.125585e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 13222
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2993
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2787
bin: 8.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.644324853228962e-5
allele num: 65408
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

DP
type: SiteQuality
SIO_000300: 2.122924e6

GenotypeQuality
all individuals: 6166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2782
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 4.095e0

MQRankSum
type: SiteQuality
SIO_000300: -4.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.24e-1

DP
type: SiteQuality
SIO_000300: 2.11968e6

QD
type: SiteQuality
SIO_000300: 1.537e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.058e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
all individuals: 420
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13215
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2762
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.133276089423166e-5
allele num: 65218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.112037e6

QD
type: SiteQuality
SIO_000300: 1.275e1

FS
type: SiteQuality
SIO_000300: 3.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e-1

GenotypeQuality
all individuals: 2427
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13208
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4777
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4329
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2306
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545738399233314e-5
allele num: 64694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.101315e6

QD
type: SiteQuality
SIO_000300: 1.087e1

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

FS
type: SiteQuality
SIO_000300: 4.515e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

GenotypeQuality
all individuals: 1983
bin: 7.25e1
variant carriers: 9

GenotypeQuality
all individuals: 637
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7736
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 3186
bin: 7.75e1
variant carriers: 9

GenotypeQuality
all individuals: 4045
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 41
allele frequency: 4.638009049773756e-2
allele num: 884
num of homozygotes: 1

East Asian
type: Population
allele count: 41
allele frequency: 4.841757203589986e-3
allele num: 8468
num of homozygotes: 0

Latino
type: Population
allele count: 350
allele frequency: 3.075030750307503e-2
allele num: 11382
num of homozygotes: 6

South Asian
type: Population
allele count: 287
allele frequency: 1.757716805487506e-2
allele num: 16328
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 1389
allele frequency: 2.133181804220291e-2
allele num: 65114
num of homozygotes: 7

African
type: Population
allele count: 936
allele frequency: 9.713574097135741e-2
allele num: 9636
num of homozygotes: 48

European (Finnish)
type: Population
allele count: 273
allele frequency: 4.153986609860012e-2
allele num: 6572
num of homozygotes: 4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.914e1

DP
type: SiteQuality
SIO_000300: 2.097757e6

VQSLOD
type: SiteQuality
SIO_000300: 6.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.23e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

MQ
type: SiteQuality
SIO_000300: 5.994e1

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeQuality
all individuals: 2310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15254
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12511
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.85112409275978e-5
allele num: 11298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64920
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.626e1

DP
type: SiteQuality
SIO_000300: 2.000283e6

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.741e0

GenotypeQuality
all individuals: 15261
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2660
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3428
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.001000200040008e-4
allele num: 9998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.004449e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.672e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
all individuals: 1905
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15716
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15264
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.181474480151229e-4
allele num: 8464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.524e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

DP
type: SiteQuality
SIO_000300: 2.015909e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

GenotypeQuality
all individuals: 15716
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2701
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.181474480151229e-4
allele num: 8464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65000
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

DP
type: SiteQuality
SIO_000300: 2.015909e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

QD
type: SiteQuality
SIO_000300: 1.524e1

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6206
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21686
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53298994358597e-5
allele num: 65232
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.062122e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.533e0

QD
type: SiteQuality
SIO_000300: 1.427e1

GenotypeQuality
all individuals: 3539
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6338
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.055861141669723e-5
allele num: 65448
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 2.148e0

QD
type: SiteQuality
SIO_000300: 1.207e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.275e0

DP
type: SiteQuality
SIO_000300: 2.080937e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2805
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.676174888940846e-4
allele num: 8554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65898
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.635e0

QD
type: SiteQuality
SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.103831e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 728
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2536
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24636
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65898
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 2.103831e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.271e1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.635e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

GenotypeQuality
all individuals: 3655
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2809
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65980
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.264132553606238e-4
allele num: 16416
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.48e-1

FS
type: SiteQuality
SIO_000300: 8.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.349e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.307e1

DP
type: SiteQuality
SIO_000300: 2.106547e6

GenotypeQuality
all individuals: 15308
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2811
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1816
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1263
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66046
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.752e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.169e0

VQSLOD
type: SiteQuality
SIO_000300: -1.156e0

DP
type: SiteQuality
SIO_000300: 2.108878e6

MQRankSum
type: SiteQuality
SIO_000300: -1.451e0

QD
type: SiteQuality
SIO_000300: 1.276e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 244
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.445e1

FS
type: SiteQuality
SIO_000300: 3.621e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.64e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 2.122405e6

GenotypeQuality
all individuals: 208
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15314
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

QD
type: SiteQuality
SIO_000300: 1.236e1

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

DP
type: SiteQuality
SIO_000300: 2.123509e6

VQSLOD
type: SiteQuality
SIO_000300: 7.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 6.304e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

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

GenotypeQuality
all individuals: 1821
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15315
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2825
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.667440061871617e-5
allele num: 10344
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

DP
type: SiteQuality
SIO_000300: 2.124513e6

FS
type: SiteQuality
SIO_000300: 6.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 1.422e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.608e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6741
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.478260869565218e-4
allele num: 11500
num of homozygotes: 0

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

African
type: Population
allele count: 18
allele frequency: 1.739802822346801e-3
allele num: 10346
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.051493120230728e-4
allele num: 66572
num of homozygotes: 1

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 2.125973e6

FS
type: SiteQuality
SIO_000300: 6.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

QD
type: SiteQuality
SIO_000300: 1.43e1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.83e-2

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15323
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6753
bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
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: -1.188e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

QD
type: SiteQuality
SIO_000300: 1.208e1

DP
type: SiteQuality
SIO_000300: 2.125786e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

GenotypeQuality
all individuals: 1272
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2584
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 2.366e0

QD
type: SiteQuality
SIO_000300: 7.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.311e0

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.411e-1

DP
type: SiteQuality
SIO_000300: 2.126333e6

GenotypeQuality
all individuals: 1821
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3682
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variant carriers: 0

GenotypeQuality
all individuals: 26214
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2583
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

FS
type: SiteQuality
SIO_000300: 9.74e-1

DP
type: SiteQuality
SIO_000300: 2.126676e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.729e0

QD
type: SiteQuality
SIO_000300: 1.628e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e0

GenotypeQuality
all individuals: 6765
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 3.166e0

DP
type: SiteQuality
SIO_000300: 2.126796e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

QD
type: SiteQuality
SIO_000300: 1.528e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1821
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26257
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2589
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 11548
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: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.792e0

DP
type: SiteQuality
SIO_000300: 2.127396e6

VQSLOD
type: SiteQuality
SIO_000300: -1.694e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.243e1

MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.073e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.026e0

GenotypeQuality
all individuals: 79
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1273
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.689e0

MQRankSum
type: SiteQuality
SIO_000300: -1.881e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.514e-1

DP
type: SiteQuality
SIO_000300: 2.127479e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.379e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

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

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2833
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6768
bin: 6.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.925e0

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.264e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

DP
type: SiteQuality
SIO_000300: 2.127673e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

GenotypeQuality
all individuals: 6768
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3685
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 9.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

DP
type: SiteQuality
SIO_000300: 2.127671e6

MQ
type: SiteQuality
SIO_000300: 5.868e1

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -6.277e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.108e1

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

GenotypeQuality
all individuals: 2832
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 12
allele frequency: 1.038961038961039e-3
allele num: 11550
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.184e1

DP
type: SiteQuality
SIO_000300: 2.128554e6

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

FS
type: SiteQuality
SIO_000300: 5.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.975e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

GenotypeQuality
all individuals: 26264
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15320
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.69e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.124e0

QD
type: SiteQuality
SIO_000300: 1.312e1

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 2.127979e6

MQRankSum
type: SiteQuality
SIO_000300: -1.179e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 6769
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: -4.139e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

DP
type: SiteQuality
SIO_000300: 2.127939e6

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.552e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.99e-1

GenotypeQuality
all individuals: 15327
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 6.737247353224255e-4
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.27e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

DP
type: SiteQuality
SIO_000300: 2.128221e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

GenotypeQuality
all individuals: 26158
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 109
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.155e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 1.072e1

DP
type: SiteQuality
SIO_000300: 2.12758e6

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

GenotypeQuality
all individuals: 6766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.477e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.127062e6

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

QD
type: SiteQuality
SIO_000300: 9.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

GenotypeQuality
all individuals: 15319
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26115
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.163e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

DP
type: SiteQuality
SIO_000300: 2.127057e6

FS
type: SiteQuality
SIO_000300: 5.382e0

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 3686
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.886e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.068e0

QD
type: SiteQuality
SIO_000300: 1.501e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

FS
type: SiteQuality
SIO_000300: 2.067e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.997e-1

DP
type: SiteQuality
SIO_000300: 2.127103e6

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

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2592
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GenotypeQuality
all individuals: 15327
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.350297065354378e-4
allele num: 66652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.175e1

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.127375e6

GenotypeQuality
all individuals: 3686
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 8.75e1
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GenotypeQuality
all individuals: 1825
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15321
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.73370319001387e-4
allele num: 11536
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.417e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 1.277e0

QD
type: SiteQuality
SIO_000300: 1.471e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.126856e6

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 7.25e1
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GenotypeQuality
all individuals: 6755
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

DP
type: SiteQuality
SIO_000300: 2.126657e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 7.02e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.27e1

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2834
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15328
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 25851
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6738
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.351148476204774e-4
allele num: 66610
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

DP
type: SiteQuality
SIO_000300: 2.126276e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.132e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2835
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2592
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.391e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

FS
type: SiteQuality
SIO_000300: 8.676e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.125431e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

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

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6747
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.124963e6

QD
type: SiteQuality
SIO_000300: 1.492e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: -2.251e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.53e-1

MQ
type: SiteQuality
SIO_000300: 5.852e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0