http://identifiers.org/exac.variant/1-185958590-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958590
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958590
    reference: chr 1
allele count: 2
allele frequency: 1.678781875870868e-5
allele num: 119134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1300-30A>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3049-30A>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3049-30A>C
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-185958594-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958594
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958594
    reference: chr 1
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3049-26C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1300-26C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3049-26C>T
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

1-185958595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958595
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958595
    reference: chr 1
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1300-25C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3049-25C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3049-25C>T
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
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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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

1-185958605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958605
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958605
    reference: chr 1
allele count: 7
allele frequency: 5.770911309337334e-5
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3049-15C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3049-15C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1300-15C>T
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 7927
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  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-185958606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958606
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958606
    reference: chr 1
allele count: 5
allele frequency: 4.121060266385336e-5
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3049-14G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3049-14G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1300-14G>A
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10383
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-185958608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958608
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958608
    reference: chr 1
allele count: 9
allele frequency: 7.416563658838072e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3049-12C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1300-12C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3049-12C>T
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10390
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

1-185958609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958609
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958609
    reference: chr 1
allele count: 8
allele frequency: 6.592175088170342e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1300-11G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3049-11G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3049-11G>A
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34100
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 794
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10384
  bin: 9.75e1
  variant carriers: 8
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

1-185958611-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958611
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958612
    reference: chr 1
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3049-5dupT
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3049-5dupT
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1300-5dupT
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-185958621-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958621
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958621
    reference: chr 1
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3050A>C
  hgvsp: ENSP00000271588.4:p.Lys1017Thr
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1301A>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3050A>C
  hgvsp: ENSP00000356462.2:p.Lys1017Thr
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10378
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys1017Thr
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-185958640-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958640
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958640
    reference: chr 1
allele count: 6
allele frequency: 4.942990838990312e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3069C>G
  hgvsp: ENST00000367492.2:c.3069C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3069C>G
  hgvsp: ENST00000271588.4:c.3069C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1320C>G
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7959
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10377
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Thr1023Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

1-185958643-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958643
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958643
    reference: chr 1
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3072C>T
  hgvsp: ENST00000271588.4:c.3072C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3072C>T
  hgvsp: ENST00000367492.2:c.3072C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1323C>T
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34130
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genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10371
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1024Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-185958651-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958651
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958651
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3080A>G
  hgvsp: ENSP00000356462.2:p.Lys1027Arg
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1331A>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3080A>G
  hgvsp: ENSP00000271588.4:p.Lys1027Arg
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7953
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 10370
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1154
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 34129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys1027Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-185958656-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958656
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958656
    reference: chr 1
allele count: 5
allele frequency: 4.118955432902216e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3085T>G
  hgvsp: ENSP00000356462.2:p.Ser1029Ala
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1336T>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3085T>G
  hgvsp: ENSP00000271588.4:p.Ser1029Ala
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10369
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7955
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1029Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

1-185958657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958657
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958657
    reference: chr 1
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1337C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3086C>T
  hgvsp: ENSP00000271588.4:p.Ser1029Leu
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3086C>T
  hgvsp: ENSP00000356462.2:p.Ser1029Leu
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10364
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34135
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1029Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-185958663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958663
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958663
    reference: chr 1
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3092G>A
  hgvsp: ENSP00000356462.2:p.Gly1031Glu
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3092G>A
  hgvsp: ENSP00000271588.4:p.Gly1031Glu
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1343G>A
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10364
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly1031Glu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

1-185958663-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958663
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958663
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1343G>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3092G>C
  hgvsp: ENSP00000271588.4:p.Gly1031Ala
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3092G>C
  hgvsp: ENSP00000356462.2:p.Gly1031Ala
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2232
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 1154
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genotype quality: GenotypeQuality
  all individuals: 7955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly1031Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-185958669-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958669
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3098A>G
  hgvsp: ENSP00000356462.2:p.Asp1033Gly
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3098A>G
  hgvsp: ENSP00000271588.4:p.Asp1033Gly
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1349A>G
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10361
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp1033Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

1-185958673-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958673
    reference: chr 1
allele count: 5
allele frequency: 4.119159032491926e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3102T>C
  hgvsp: ENST00000367492.2:c.3102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3102T>C
  hgvsp: ENST00000271588.4:c.3102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1353T>C
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10362
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34124
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1034Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

1-185958674-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958674
    reference: chr 1
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1354A>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3103A>G
  hgvsp: ENSP00000271588.4:p.Ser1035Gly
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3103A>G
  hgvsp: ENSP00000356462.2:p.Ser1035Gly
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 34122
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genotype quality: GenotypeQuality
  all individuals: 1154
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genotype quality: GenotypeQuality
  all individuals: 7956
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genotype quality: GenotypeQuality
  all individuals: 2351
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10357
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ser1035Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-185958679-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958679
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958679
    reference: chr 1
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3108G>C
  hgvsp: ENST00000271588.4:c.3108G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1359G>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3108G>C
  hgvsp: ENST00000367492.2:c.3108G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7955
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 795
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34120
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu1036Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-185958684-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958684
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958684
    reference: chr 1
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1364T>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3113T>C
  hgvsp: ENSP00000356462.2:p.Val1038Ala
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3113T>C
  hgvsp: ENSP00000271588.4:p.Val1038Ala
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10354
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val1038Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-185958705-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958705
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958705
    reference: chr 1
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3134A>G
  hgvsp: ENSP00000271588.4:p.Glu1045Gly
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3134A>G
  hgvsp: ENSP00000356462.2:p.Glu1045Gly
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1385A>G
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10354
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1045Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-185958715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958715
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958715
    reference: chr 1
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1395G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3144G>A
  hgvsp: ENST00000367492.2:c.3144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3144G>A
  hgvsp: ENST00000271588.4:c.3144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7925
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 19
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10342
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu1048Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-185958722-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958722
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958721
    reference: chr 1
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3152delG
  hgvsp: ENSP00000356462.2:p.Cys1051SerfsTer16
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1403delG
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3152delG
  hgvsp: ENSP00000271588.4:p.Cys1051SerfsTer16
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 792
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genotype quality: GenotypeQuality
  all individuals: 30
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys1051SerfsTer16
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: TG
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

1-185958724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958724
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958724
    reference: chr 1
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3153C>T
  hgvsp: ENST00000271588.4:c.3153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1404C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3153C>T
  hgvsp: ENST00000367492.2:c.3153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10329
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys1051Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-185958726-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958726
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958726
    reference: chr 1
allele count: 3
allele frequency: 2.473288484368817e-5
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3155C>A
  hgvsp: ENSP00000271588.4:p.Thr1052Asn
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1406C>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3155C>A
  hgvsp: ENSP00000356462.2:p.Thr1052Asn
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10328
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7887
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr1052Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-185958737-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958737
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958737
    reference: chr 1
allele count: 7736
allele frequency: 6.380100946788507e-2
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3166A>G
  hgvsp: ENSP00000271588.4:p.Thr1056Ala
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1417A>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3166A>G
  hgvsp: ENSP00000356462.2:p.Thr1056Ala
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.75e1
  variant carriers: 513
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 5.25e1
  variant carriers: 570
genotype depth: GenotypeDepth
  all individuals: 11482
  bin: 3.25e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 25937
  bin: 2.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 5.75e1
  variant carriers: 538
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 4.25e1
  variant carriers: 443
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 6.75e1
  variant carriers: 404
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 3.75e1
  variant carriers: 324
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 213
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.25e1
  variant carriers: 454
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.25e1
  variant carriers: 414
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 9.75e1
  variant carriers: 1554
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33529
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12442
  bin: 9.75e1
  variant carriers: 6323
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 9.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7570
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Thr1056Ala
num of homozygotes: 1357
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

1-185958742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958742
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958742
    reference: chr 1
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3171C>T
  hgvsp: ENST00000367492.2:c.3171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1422C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3171C>T
  hgvsp: ENST00000271588.4:c.3171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37104
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8367
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 656
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7243
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1057Ala
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: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

1-185958748-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958748
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958748
    reference: chr 1
allele count: 12
allele frequency: 9.903277985013039e-5
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1428C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3177C>T
  hgvsp: ENST00000271588.4:c.3177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3177C>T
  hgvsp: ENST00000367492.2:c.3177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12507
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8457
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
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  variant carriers: 1
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7242
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr1059Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-185958749-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958749
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958749
    reference: chr 1
allele count: 2
allele frequency: 1.650600818698006e-5
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3178G>A
  hgvsp: ENSP00000356462.2:p.Ala1060Thr
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1429G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3178G>A
  hgvsp: ENSP00000271588.4:p.Ala1060Thr
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7225
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1060Thr
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: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

1-185958785-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958785
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958785
    reference: chr 1
allele count: 18
allele frequency: 1.510497960827753e-4
allele num: 119166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3208+6A>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1459+6A>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3208+6A>T
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11101
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25965
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
hgvs: c.3208+6A>T
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-185958789-GGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958789
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958787
    reference: chr 1
allele count: 1
allele frequency: 8.420059950826851e-6
allele num: 118764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1459+12_1459+13delTG
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3208+12_3208+13delTG
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3208+12_3208+13delTG
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7879
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 849
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3894
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 42
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: GGT
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

1-185958794-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958794
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958794
    reference: chr 1
allele count: 1
allele frequency: 8.465536799688468e-6
allele num: 118126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3208+15A>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1459+15A>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3208+15A>G
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7164
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

1-185958795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958795
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958795
    reference: chr 1
allele count: 1
allele frequency: 8.472422265525714e-6
allele num: 118030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1459+16G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3208+16G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3208+16G>A
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7161
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

1-185958801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958801
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958801
    reference: chr 1
allele count: 2
allele frequency: 1.706106153924897e-5
allele num: 117226
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3208+22G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1459+22G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3208+22G>A
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7159
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5508
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

1-185958805-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958805
    reference: chr 1
allele count: 1
allele frequency: 8.565603960735272e-6
allele num: 116746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1459+26T>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3208+26T>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3208+26T>C
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1501
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 7154
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1522
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 524
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21049
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-185958820-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958820
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958820
    reference: chr 1
allele count: 1
allele frequency: 8.82347750895583e-6
allele num: 113334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3208+41A>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3208+41A>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1459+41A>G
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  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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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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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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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7140
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

1-185958823-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185958823
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185958823
    reference: chr 1
allele count: 9
allele frequency: 7.967704238818655e-5
allele num: 112956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1459+44T>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3208+44T>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3208+44T>C
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9423
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12119
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6853
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7031
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7145
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

1-185959370-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959370
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959370
    reference: chr 1
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3209-37T>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3209-37T>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1460-37T>C
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17485
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7674
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-185959383-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959383
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959383
    reference: chr 1
allele count: 53
allele frequency: 4.36717205009888e-4
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3209-24T>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3209-24T>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1460-24T>G
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 9.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19405
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

1-185959386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959386
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959386
    reference: chr 1
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3209-21C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3209-21C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1460-21C>T
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

1-185959388-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959388
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959388
    reference: chr 1
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3209-19A>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3209-19A>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1460-19A>G
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  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: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-185959391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959391
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959391
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3209-16C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3209-16C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1460-16C>T
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
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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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17435
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

1-185959391-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959391
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959389
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1460-15_1460-14delAT
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3209-15_3209-14delAT
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3209-15_3209-14delAT
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17435
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: CAT
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-185959393-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959393
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959393
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3209-14T>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1460-14T>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3209-14T>C
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16995
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
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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
  all individuals: 14462
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1083
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3105
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 7700
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genotype quality: GenotypeQuality
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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: 3832
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

1-185959406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959406
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959406
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3209-1G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1460-1G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3209-1G>A
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14463
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17003
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17433
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7704
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 8.25e1
  variant carriers: 0
hgvs: c.3209-1G>A
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-185959407-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959407
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959407
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3209T>A
  hgvsp: ENSP00000356462.2:p.Val1070Glu
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3209T>A
  hgvsp: ENSP00000271588.4:p.Val1070Glu
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1460T>A
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val1070Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-185959407-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959407
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959407
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3209T>G
  hgvsp: ENSP00000271588.4:p.Val1070Gly
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3209T>G
  hgvsp: ENSP00000356462.2:p.Val1070Gly
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1460T>G
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17432
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val1070Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-185959408-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959408
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959408
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3210A>G
  hgvsp: ENST00000367492.2:c.3210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3210A>G
  hgvsp: ENST00000271588.4:c.3210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1461A>G
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 7
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genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
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genotype depth: GenotypeDepth
  all individuals: 1095
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17430
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2675
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3829
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4653
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genotype quality: GenotypeQuality
  all individuals: 3104
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genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7703
  bin: 6.75e1
  variant carriers: 0
hgvs: c.3210A>G
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-185959414-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959414
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959414
    reference: chr 1
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3216C>T
  hgvsp: ENST00000271588.4:c.3216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3216C>T
  hgvsp: ENST00000367492.2:c.3216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1467C>T
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
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genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17430
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro1072Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-185959415-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959415
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959415
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3217A>G
  hgvsp: ENSP00000271588.4:p.Arg1073Gly
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1468A>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3217A>G
  hgvsp: ENSP00000356462.2:p.Arg1073Gly
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17428
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4652
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1073Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-185959417-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959417
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959417
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3219A>G
  hgvsp: ENST00000367492.2:c.3219A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3219A>G
  hgvsp: ENST00000271588.4:c.3219A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1470A>G
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17427
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19490
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1073Arg
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

1-185959428-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959428
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959428
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1481A>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3230A>G
  hgvsp: ENSP00000271588.4:p.Asp1077Gly
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3230A>G
  hgvsp: ENSP00000356462.2:p.Asp1077Gly
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7701
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17424
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp1077Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

1-185959433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959433
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959433
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3235C>T
  hgvsp: ENSP00000356462.2:p.Arg1079Ter
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1486C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3235C>T
  hgvsp: ENSP00000271588.4:p.Arg1079Ter
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14452
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17424
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1079Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

1-185959443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959443
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959443
    reference: chr 1
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3245C>T
  hgvsp: ENSP00000356462.2:p.Ser1082Phe
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1496C>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3245C>T
  hgvsp: ENSP00000271588.4:p.Ser1082Phe
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
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
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7698
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1082Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-185959453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959453
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959453
    reference: chr 1
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3255G>A
  hgvsp: ENST00000367492.2:c.3255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1506G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3255G>A
  hgvsp: ENST00000271588.4:c.3255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1812
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7700
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genotype quality: GenotypeQuality
  all individuals: 17419
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys1085Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-185959457-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959457
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959457
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3259G>T
  hgvsp: ENSP00000271588.4:p.Val1087Phe
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3259G>T
  hgvsp: ENSP00000356462.2:p.Val1087Phe
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1510G>T
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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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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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3095
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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: 17417
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genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4642
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val1087Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

1-185959460-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959460
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959460
    reference: chr 1
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3262G>A
  hgvsp: ENSP00000356462.2:p.Glu1088Lys
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1513G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3262G>A
  hgvsp: ENSP00000271588.4:p.Glu1088Lys
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16988
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17416
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu1088Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

1-185959468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959468
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959468
    reference: chr 1
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3270C>T
  hgvsp: ENST00000367492.2:c.3270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3270C>T
  hgvsp: ENST00000271588.4:c.3270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1521C>T
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17415
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1090Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-185959469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959469
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959469
    reference: chr 1
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1522G>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3271G>A
  hgvsp: ENSP00000271588.4:p.Val1091Ile
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3271G>A
  hgvsp: ENSP00000356462.2:p.Val1091Ile
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17416
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val1091Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

1-185959470-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959470
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959470
    reference: chr 1
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1523T>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3272T>A
  hgvsp: ENSP00000356462.2:p.Val1091Asp
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3272T>A
  hgvsp: ENSP00000271588.4:p.Val1091Asp
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17413
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val1091Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

1-185959474-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959474
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959474
    reference: chr 1
allele count: 13
allele frequency: 1.071175491504754e-4
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3276T>G
  hgvsp: ENST00000367492.2:c.3276T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3276T>G
  hgvsp: ENST00000271588.4:c.3276T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1527T>G
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 268
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
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  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 14428
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16975
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genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4635
  bin: 7.75e1
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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: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17412
  bin: 9.75e1
  variant carriers: 13
hgvs: p.Leu1092Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-185959475-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959475
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959475
    reference: chr 1
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1528G>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3277G>T
  hgvsp: ENSP00000271588.4:p.Ala1093Ser
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3277G>T
  hgvsp: ENSP00000356462.2:p.Ala1093Ser
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17404
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1093Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-185959476-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959476
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959476
    reference: chr 1
allele count: 5
allele frequency: 4.119973632168754e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1529C>A
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3278C>A
  hgvsp: ENSP00000356462.2:p.Ala1093Glu
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3278C>A
  hgvsp: ENSP00000271588.4:p.Ala1093Glu
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19489
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genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
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genotype quality: GenotypeQuality
  all individuals: 17403
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2673
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1093Glu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-185959484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959484
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959484
    reference: chr 1
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3286G>A
  hgvsp: ENSP00000271588.4:p.Glu1096Lys
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3286G>A
  hgvsp: ENSP00000356462.2:p.Glu1096Lys
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1537G>A
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16949
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu1096Lys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-185959490-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959490
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959490
    reference: chr 1
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1543A>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3292A>G
  hgvsp: ENSP00000356462.2:p.Thr1098Ala
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3292A>G
  hgvsp: ENSP00000271588.4:p.Thr1098Ala
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  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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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17400
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19483
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr1098Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-185959498-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959498
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959498
    reference: chr 1
allele count: 2
allele frequency: 1.648940555692967e-5
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3300A>G
  hgvsp: ENST00000271588.4:c.3300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3300A>G
  hgvsp: ENST00000367492.2:c.3300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1551A>G
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4634
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 19436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17399
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1100Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

1-185959500-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959500
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959500
    reference: chr 1
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1553G>T
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3302G>T
  hgvsp: ENSP00000271588.4:p.Cys1101Phe
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3302G>T
  hgvsp: ENSP00000356462.2:p.Cys1101Phe
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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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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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17398
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3081
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys1101Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

1-185959513-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959513
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959513
    reference: chr 1
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3315C>T
  hgvsp: ENST00000367492.2:c.3315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3315C>T
  hgvsp: ENST00000271588.4:c.3315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1566C>T
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17398
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser1105Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum

1-185959515-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959515
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959515
    reference: chr 1
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3317T>C
  hgvsp: ENSP00000356462.2:p.Leu1106Ser
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3317T>C
  hgvsp: ENSP00000271588.4:p.Leu1106Ser
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1568T>C
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 1802
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
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genotype quality: GenotypeQuality
  all individuals: 7663
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1106Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

1-185959530-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959530
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959530
    reference: chr 1
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3332T>C
  hgvsp: ENSP00000271588.4:p.Ile1111Thr
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3332T>C
  hgvsp: ENSP00000356462.2:p.Ile1111Thr
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1583T>C
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17396
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile1111Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-185959534-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959534
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959534
    reference: chr 1
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3336T>C
  hgvsp: ENST00000367492.2:c.3336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1587T>C
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3336T>C
  hgvsp: ENST00000271588.4:c.3336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17396
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4622
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr1112Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

1-185959541-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959541
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959541
    reference: chr 1
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3343A>G
  hgvsp: ENSP00000271588.4:p.Lys1115Glu
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3343A>G
  hgvsp: ENSP00000356462.2:p.Lys1115Glu
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1594A>G
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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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: 17394
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genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 202
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys1115Glu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-185959542-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959542
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959542
    reference: chr 1
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3344A>G
  hgvsp: ENSP00000356462.2:p.Lys1115Arg
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1595A>G
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3344A>G
  hgvsp: ENSP00000271588.4:p.Lys1115Arg
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 267
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17393
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys1115Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-185959543-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959543
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959543
    reference: chr 1
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3345A>C
  hgvsp: ENSP00000271588.4:p.Lys1115Asn
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3345A>C
  hgvsp: ENSP00000356462.2:p.Lys1115Asn
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1596A>C
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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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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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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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: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys1115Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

1-185959552-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 185959552
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 185959552
    reference: chr 1
allele count: 13
allele frequency: 1.073599365750529e-4
allele num: 121088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000356462
  ensembl transcript: ENST00000367492
  gene symbol: HMCN1
  hgvsc: ENST00000367492.2:c.3354G>T
  hgvsp: ENSP00000356462.2:p.Gln1118His
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143341
  ensembl protein: ENSP00000271588
  ensembl transcript: ENST00000271588
  gene symbol: HMCN1
  hgvsc: ENST00000271588.4:c.3354G>T
  hgvsp: ENSP00000271588.4:p.Gln1118His
  variant of: http://identifiers.org/hgnc/19194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143341
  ensembl transcript: ENST00000485744
  gene symbol: HMCN1
  hgvsc: ENST00000485744.1:n.1605G>T
  variant of: http://identifiers.org/hgnc/19194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gln1118His
num of homozygotes: 0
population: Latino
reference allele: G

GenotypeQuality
all individuals: 2290
bin: 7.75e1
variant carriers: 0

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

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: 8616
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.353494939985879e-4
allele num: 8498
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: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 8.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.993104e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.434e1

DP
type: SiteQuality
SIO_000300: 2.043476e6

VQSLOD
type: SiteQuality
SIO_000300: 3.55e-1

InbreedingCoeff
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SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
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FS
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SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
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FS
type: SiteQuality
SIO_000300: 5.121e0

VQSLOD
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MQRankSum
type: SiteQuality
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MQ
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DP
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SIO_000300: 2.043778e6

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 5.99880023995201e-5
allele num: 66680
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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FS
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SIO_000300: 1.316e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.392e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.497885993583016e-5
allele num: 66698
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 2.046193e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

QD
type: SiteQuality
SIO_000300: 1.258e1

GenotypeQuality
all individuals: 2228
bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.166e1

DP
type: SiteQuality
SIO_000300: 2.046467e6

GenotypeQuality
all individuals: 2342
bin: 7.75e1
variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 5.995743022454058e-5
allele num: 66714
num of homozygotes: 0

Other
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allele num: 906
num of homozygotes: 0

Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.298e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.033e0

DP
type: SiteQuality
SIO_000300: 2.046425e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.935e1

QD
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 0

South Asian
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European (Non-Finnish)
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Latino
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African
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East Asian
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Other
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European (Finnish)
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ReadPosRankSum
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ClippingRankSum
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FS
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DP
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MQ
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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MQ
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DP
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MQRankSum
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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European (Finnish)
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Other
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South Asian
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African
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East Asian
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Latino
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European (Non-Finnish)
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QD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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ReadPosRankSum
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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GenotypeQuality
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African
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South Asian
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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QD
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FS
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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Latino
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Other
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European (Finnish)
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South Asian
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MQ
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FS
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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Latino
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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African
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VQSLOD
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QD
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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GenotypeQuality
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Other
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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East Asian
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African
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FS
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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African
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East Asian
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Other
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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DP
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VQSLOD
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QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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GenotypeQuality
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African
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European (Finnish)
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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FS
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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DP
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ClippingRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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Latino
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Other
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East Asian
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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MQ
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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East Asian
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ClippingRankSum
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VQSLOD
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MQ
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DP
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QD
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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South Asian
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Latino
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European (Non-Finnish)
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FS
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BaseQRankSum
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MQRankSum
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QD
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DP
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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South Asian
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European (Finnish)
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Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

QD
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SIO_000300: 1.649e1

MQRankSum
type: SiteQuality
SIO_000300: -6.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.045485e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.082e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.089e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.933e0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

FS
type: SiteQuality
SIO_000300: 2.945e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.718e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.044923e6

GenotypeQuality
all individuals: 2214
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.498e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

QD
type: SiteQuality
SIO_000300: 1.134e1

VQSLOD
type: SiteQuality
SIO_000300: -1.164e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 1.034e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 2.044412e6

GenotypeQuality
all individuals: 10336
bin: 9.75e1
variant carriers: 1

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: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.011e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

FS
type: SiteQuality
SIO_000300: 1.434e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 2.043529e6

QD
type: SiteQuality
SIO_000300: 1.572e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 789
bin: 8.75e1
variant carriers: 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: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.822e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

DP
type: SiteQuality
SIO_000300: 2.043239e6

VQSLOD
type: SiteQuality
SIO_000300: -3.96e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

FS
type: SiteQuality
SIO_000300: 6.942e0

MQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497616263380409e-5
allele num: 66702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 16508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.027e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

FS
type: SiteQuality
SIO_000300: 4.565e0

DP
type: SiteQuality
SIO_000300: 2.04279e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

GenotypeQuality
all individuals: 1987
bin: 7.25e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 92
allele frequency: 1.391830559757943e-2
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1298
allele frequency: 1.946610677864427e-2
allele num: 66680
num of homozygotes: 16

East Asian
type: Population
allele count: 44
allele frequency: 5.112712061352545e-3
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 5187
allele frequency: 4.9875e-1
allele num: 10400
num of homozygotes: 1314

South Asian
type: Population
allele count: 720
allele frequency: 4.365753092408441e-2
allele num: 16492
num of homozygotes: 14

Other
type: Population
allele count: 54
allele frequency: 5.947136563876652e-2
allele num: 908
num of homozygotes: 5

Latino
type: Population
allele count: 341
allele frequency: 2.950848044305988e-2
allele num: 11556
num of homozygotes: 8

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 2.189562e6

VQSLOD
type: SiteQuality
SIO_000300: 1.275e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.901e-1

QD
type: SiteQuality
SIO_000300: 1.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

FS
type: SiteQuality
SIO_000300: 1.222e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 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: 66676
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213150551983501e-4
allele num: 16486
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.917643e6

VQSLOD
type: SiteQuality
SIO_000300: -1.372e0

FS
type: SiteQuality
SIO_000300: 1.1761e1

MQRankSum
type: SiteQuality
SIO_000300: 9.11e-1

QD
type: SiteQuality
SIO_000300: 1.423e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.665511265164644e-4
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.915356e6

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

GenotypeQuality
all individuals: 1471
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
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: 16474
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 3.916e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

DP
type: SiteQuality
SIO_000300: 1.91471e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
all individuals: 7196
bin: 9.75e1
variant carriers: 18

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

East Asian
type: Population
allele count: 18
allele frequency: 2.1291696238467e-3
allele num: 8454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
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: 16242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.26e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.037e0

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 5.625e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 1.830375e6

GenotypeQuality
all individuals: 7171
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
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: 11226
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.561036528254761e-4
allele num: 6406
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65492
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 3.067e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.243e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.805895e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.135e0

GenotypeQuality
all individuals: 843
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535343609899896e-5
allele num: 65132
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16128
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

FS
type: SiteQuality
SIO_000300: 1.2239e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

DP
type: SiteQuality
SIO_000300: 1.755916e6

GenotypeQuality
all individuals: 1682
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.968609865470852e-5
allele num: 11150
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65098
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.153e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

MQ
type: SiteQuality
SIO_000300: 5.903e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.745894e6

FS
type: SiteQuality
SIO_000300: 6.483e0

MQRankSum
type: SiteQuality
SIO_000300: 8.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.135e-1

GenotypeQuality
all individuals: 1590
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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Latino
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Other
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East Asian
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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FS
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QD
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DP
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MQRankSum
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BaseQRankSum
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Other
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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East Asian
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QD
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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DP
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QD
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InbreedingCoeff
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MQRankSum
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FS
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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East Asian
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South Asian
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Other
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European (Finnish)
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MQRankSum
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FS
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QD
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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GenotypeQuality
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South Asian
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Other
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African
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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FS
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MQ
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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Latino
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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FS
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QD
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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Latino
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African
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
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FS
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BaseQRankSum
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MQ
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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Latino
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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MQ
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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South Asian
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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MQ
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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African
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East Asian
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European (Finnish)
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MQ
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FS
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ClippingRankSum
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VQSLOD
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QD
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Non-Finnish)
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QD
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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InbreedingCoeff
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MQ
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ReadPosRankSum
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FS
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DP
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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QD
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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allele num: 66738
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Other
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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QD
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FS
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InbreedingCoeff
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DP
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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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African
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Latino
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South Asian
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QD
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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European (Finnish)
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African
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Other
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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QD
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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MQ
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FS
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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Latino
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East Asian
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African
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Other
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South Asian
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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BaseQRankSum
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FS
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InbreedingCoeff
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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Other
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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DP
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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Other
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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South Asian
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Latino
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allele frequency: 8.638562543192812e-5
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African
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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allele num: 11576
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Other
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African
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allele frequency: 9.617234083477592e-5
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num of homozygotes: 0

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

Other
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European (Non-Finnish)
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South Asian
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African
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East Asian
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Latino
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European (Finnish)
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DP
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MQRankSum
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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African
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Latino
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Other
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East Asian
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European (Non-Finnish)
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FS
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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South Asian
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African
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East Asian
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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FS
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ClippingRankSum
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GenotypeQuality
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African
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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DP
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeQuality
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South Asian
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Other
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Latino
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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Latino
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African
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MQ
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FS
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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DP
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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African
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East Asian
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DP
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QD
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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Latino
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South Asian
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East Asian
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VQSLOD
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QD
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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FS
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MQ
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MQRankSum
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GenotypeQuality
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European (Non-Finnish)
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Latino
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African
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East Asian
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South Asian
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European (Finnish)
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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MQRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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GenotypeQuality
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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QD
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InbreedingCoeff
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VQSLOD
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FS
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DP
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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East Asian
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European (Finnish)
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Other
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South Asian
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African
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European (Non-Finnish)
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Latino
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QD
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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East Asian
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeQuality
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African
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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InbreedingCoeff
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FS
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QD
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VQSLOD
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MQRankSum
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DP
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MQ
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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MQRankSum
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DP
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VQSLOD
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QD
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SIO_000300: 1.349e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.932e0

FS
type: SiteQuality
SIO_000300: 4.692e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0